Split (1)

train · 138 rows

pmcid string	text string	Vitals_Hema list	GI list	History list	Neuro list	Lab_Image list	CVS list	ENDO list	GU list	RESP list	MSK list	EENT list	DERM list	Pregnancy list	LYMPH list	Age (at case presentation) list	Age (of onset) list	Confirmed_Diagnosis(IEM) list	IEM_Treatment list
2876866	{'Case Report': "A 23 year-old female patient, 160 cm tall and 48 kg, was diagnosed with acute appendicitis and admitted for a laparoscopic appendectomy. She had no abnormalities in her pediatric medical history, but from the age 18, she had slowly begun experiencing headaches in her left temporal lobe, nausea, and vom...	[ "blood pressure 115/65 mmHg, heart rate 100 beats / min, oxygen saturation rate 97 %", "blood pressure at 120 - 140/60 - 80 mmHg, heart rate 80 - 100 beats / min, oxygen saturation 100 %, body temperature 37.0 - 37.4 â„ƒ" ]	[ "acute appendicitis", "nausea, and vomiting" ]	[ "laparoscopic appendectomy", "no abnormalities in her pediatric medical history", "Type I DM" ]	[ "headaches in her left temporal lobe", "generalized convulsions and aphasia", "In a brain MRI and MRA, an infarction in the posterior divisions of the left mesencephalic arteries was found.", "patient was able to read but had auditory aphasia such that she could not understand spoken words", "no signs of hy...	[ "In a brain MRI and MRA, an infarction in the posterior divisions of the left mesencephalic arteries was found. Also, in a blood test, an increase in lactic acid was discovered ( 7.54 mM / L ).", "adenosine - to - guanine transition at t - RNA nucleotide 3243 in PCR sequencing", "The laboratory results showed h...	[ "In a brain MRI and MRA, an infarction in the posterior divisions of the left mesencephalic arteries was found.", "There were no abnormal findings in the chest X - ray and electrocardiogram. One year prior to her admission to the hospital, she had an ECG that revealed a cardiac index of 67 % and no abnormal findi...	[ "Type I DM.", "hyperglycemia ( 257 mg / dl ),", "her blood sugar was 176 mg / dl.", "her blood sugar level was 120 mg / dl." ]	[]	[]	[]	[]	[]	[]	[]	[ "23 year - old" ]	[ "age 18" ]	[ "MELAS syndrome" ]	[]
2698060	{'Case 2': "Four days after the development of fever, cough, and rhinorrhea, a 6-month-old, previously healthy girl was admitted with generalized tonic-clonic seizure and mental change, as well as increased rigidity of the extremities. CT images of the brain, obtained at another hospital, depicted symmetric low-density...	[]	[ "slightly increased levels of serum aspartate aminotransferase,", "vomiting, and diarrhea", "increased serum aspartate and alanine aminotransferase levels," ]	[ "previously healthy girl", "Two months earlier, the patient 's elder sister had died of acute encephalopathy", "previously healthy" ]	[ "generalized tonic - clonic seizure and mental change, as well as increased rigidity of the extremities", "generalized tonic - clonic seizure.", "drowsy and showed decerebrate rigidity, without focal neurologic signs", "His mental state improved, and on the fourth day of hospitalization he was almost alert. C...	[ "symmetric low - density lesions in the thalami and external capsules", "symmetric T1- and T2 - prolonged areas were present in the thalami and external capsules. T2 * -weighted gradient - echo images clearly showed that within the thalamic lesions, acute hemorrhage had occurred. After the intravenous administrat...	[]	[]	[]	[ "cough, and rhinorrhea," ]	[]	[]	[]	[]	[]	[ "6 - month - old", "10 - month - old" ]	[ "6 - month - old", "10 - month - old" ]	[]	[]
3098999	{'Patient 2': 'The elder sister of patient 1 was an 84-year-old woman with a stooping posture presenting with tremors since the age of 60. In her 70s she started walking with the aid of a walking stick. At 82 years of age, she was hospitalized for generalized seizures and disturbed consciousness. CT of T10 revealed sev...	[]	[]	[ "she died at the age of 84", "CK levels in all her four sons were found to be elevated and her third son was diagnosed with epilepsy", "She and her fourth son had also been previously diagnosed with Hashimoto thyroiditis ( Fig. 1 )", "hypothyroidism", "family history of bent spine, i.e., in her elder sister...	[ "presenting with tremors since the age of 60", "she started walking with the aid of a walking stick", "At 82 years of age, she was hospitalized for generalized seizures and disturbed consciousness", "Brain MRI revealed hyperintense lesions around the white matter ( Fig. 2 f );", "gait disturbance.", "she ...	[ "CT of T10 revealed severe atrophy and fatty degeneration of the paraspinal muscles ( Fig. 2 e ). Brain MRI revealed hyperintense lesions around the white matter ( Fig. 2 f ); elevated serum and CSF lactate levels were also noted at this time. The mitochondrial DNA analysis of the lymphocytes did not indicate MELAS...	[ "Holter monitoring revealed high - frequency premature contractions." ]	[ "She and her fourth son had also been previously diagnosed with Hashimoto thyroiditis ( Fig. 1 ).", "hypothyroidism", "thyroid - stimulating hormone levels were slightly low at 0.47 μIU / ml ( normal range 0.5–5.0 μIU / ml ).", "Under the administration of 50 μg / day levothyroxine; antithyroglobulin antibody...	[]	[]	[ "with a stooping posture", "she started walking with the aid of a walking stick", "abnormal posture and gait disturbance", "slight stooping posture and a pushed - out waist", "she started using a walking stick because of her unstable gait.", "gradually became more difficult for her to climb the stairs", ...	[ "bilateral cataracts, and hearing loss", "eye movements were normal", "Pure - tone audiometry indicated sensorineural and high - frequency hearing loss." ]	[]	[]	[]	[ "84 - year - old", "73 - year - old" ]	[ "age of 60", "age of 63" ]	[]	[]
3757256	{'Patient': 'The patient was the second child of nonconsanguineous parents who was born after an uneventful pregnancy of 42 weeks. At birth, early findings comprised congenital hypotonia, low facial expression, and inverted feet. He was diagnosed with swallowing problems and gastroesophageal reflux. Dysmorphic features...	[]	[ "swallowing problems and gastroesophageal reflux" ]	[ "second child of nonconsanguineous parents who was born after an uneventful pregnancy of 42 weeks", "positive family history of minicore myopathy ( his sister died with this condition at age 5 due to aspiration )", "The parents were heterozygous carriers ( Wortmann et al. 2009 )" ]	[ "congenital hypotonia, low facial expression, and inverted feet.", "facies myopathica", "the boy could not sit up, raise his arms above the level of the hips, hold a pen, or stand due to his severe, generalized muscle weakness and contractures. Further physical signs were bilateral ptosis, facies myopathica wit...	[ "chronic lactic acidemia ( lactate 2.3–4 mmol / l, C : < 2.1 mmol / l ), 3 - methylglutaconic aciduria ( 80 μmol / l, C : < 18 μmol / mmol creatinine ), and recurrent hypoglycemic episodes. Serum alanine levels ( 610 μmol / l, C : < 450 μmol / l ) and creatine kinase ( CK ) levels ( 500–800 U / l, C : 180 U / l ) w...	[]	[ "recurrent hypoglycemic episodes." ]	[]	[]	[ "congenital hypotonia, low facial expression, and inverted feet.", "swallowing problems", "hyperlaxity with arachnodactyly", "initial histological findings suggested a possible multi / minicore disease", "creatine kinase ( CK ) levels ( 500–800 U / l, C : 180 U / l ) were moderately increased", "No motor ...	[ "low - set ears, hypermetropia" ]	[ "Dysmorphic features included brachyturricephaly, facies myopathica" ]	[ "born after an uneventful pregnancy of 42 weeks" ]	[]	[ "At birth" ]	[]	[ "RYR1" ]	[]
3469805	{'Case Report': "The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria, and cerebellar ataxia. Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes...	[]	[]	[ "The patient 's mother ( II-2 ) and uncle ( II-3 ) also had optic neuropathy, but other neurological abnormalities such as ataxia and dystonia were not observed. The patient 's mother has a history of subarachnoid hemorrhage. MRI of his mother disclosed mild atrophy of the optic nerve ( Fig. 2E ), pons, and cerebel...	[ "gait disturbances", "horizontal gaze palsy, gaze - evoked nystagmus, dysarthria, and cerebellar ataxia", "Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes in the bilateral inferior olivary nucleus", "severe dizziness and double vision", "gait disturbances", ...	[ "Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes in the bilateral inferior olivary nucleus", "Mutational analyses of mitochondrial DNA identified the coexistence of heteroplasmic G11778A and homoplasmic T3394C mutations.", "Blood and cerebrospinal fluid analyses...	[]	[]	[]	[]	[]	[ "visual and gait disturbances", "horizontal gaze palsy, gaze - evoked nystagmus", "atrophy of the optic nerve", "severe dizziness and double vision", "visual and gait disturbances", "bilateral exotropia, double vision, incomplete horizontal movement of the eyes to the bilateral side, horizontal, and verti...	[]	[]	[]	[ "37 - year - old" ]	[ "10 years of age" ]	[ "LHON plus olivocerebellar degeneration" ]	[]
3629250	{'Case': "A 27-year-old female was admitted to the hospital because of left hemiplegia and aphasia. She was 162 centimeters tall and 30 kilograms in weight. She was born after a normal pregnancy and delivery. There was no family history of neurological diseases. Motor and intellectual development was normally attained ...	[ "162 centimeters tall and 30 kilograms in weight.", "Her vital signs were stable" ]	[]	[ "no family history of neurological diseases", "Motor and intellectual development was normally attained during infancy.", "hospitalized for general muscle weakness and gait disturbance when she was 6 years old.", "24 years old she had sudden syncope", "when the patient was 26, she had another stroke" ]	[ "left hemiplegia and aphasia", "Motor and intellectual development was normally attained during infancy", "general muscle weakness and gait disturbance", "decreased muscle tone and strength, and atrophic muscle mass", "sudden syncope", "An magnetic resonance imaging ( MRI ) revealed acute infarction of th...	[ "The biopsy showed mitochondrial myopathy of the pleoconial type", "Her first echocardiography was completed afterwards and showed marked hypertrophy of both ventricles without any regional wall problems.", "An magnetic resonance imaging ( MRI ) revealed acute infarction of the left basal ganglia and the left f...	[ "Her first echocardiography was completed afterwards and showed marked hypertrophy of both ventricles without any regional wall problems.", "no specific findings in chest X - rays or electrocardiography", "An magnetic resonance angiography showed an occluded right distal internal carotid artery and right middle...	[]	[]	[]	[ "general muscle weakness and gait disturbance", "decreased muscle tone and strength, and atrophic muscle mass.", "consistent muscle weakness", "mitochondrial myopathy of the pleoconial type" ]	[]	[]	[ "She was born after a normal pregnancy and delivery." ]	[]	[ "27 - year - old" ]	[]	[ "MELAS syndrome" ]	[]
3242024	{'Case': "A 21-year-old woman was admitted to the hospital for a seizure-like episode lasting for approximately five minutes and subsiding spontaneously. The patient had frequent and insidious onset of seizure-like episodes, dysarthria, gait disturbance and a right-sided visual field defect that had started four years ...	[ "blood pressure of 111/59 mm Hg, pulse rate of 109 beats / min, respiratory rate of 20 / min, and body temperature of 36.0 â„ƒ.", "blood pressure of 209/147 mm Hg, pulse rate of 140 beats / min, respiratory rate of 25 / min, and body temperature of 36.5 â„ƒ" ]	[]	[ "frequent and insidious onset of seizure - like episodes, dysarthria, gait disturbance and a right - sided visual field defect that had started four years ago without any history of essential hypertension, diabetes mellitus and dyslipidemia." ]	[ "seizure - like episode lasting for approximately five minutes and subsiding spontaneously", "frequent and insidious onset of seizure - like episodes, dysarthria, gait disturbance and a right - sided visual field defect that had started four years ago", "Laboratory results were raised cerebrospinal fluid ( CSF ...	[ "Laboratory results were raised cerebrospinal fluid ( CSF ) lactate of 5.2 mmol / L.", "Brain MRI showed infarction in the right temporal lobe, ischemia in the left posterior frontoparietal cortex and basal ganglia, and cystic lesion in the pineal gland with brainstem and cerebellar atrophy ( Fig. 1 ).", "Trans...	[ "electrocardiography ( ECG ) showed supraventricular tachycardia", "follow - up ECG showed sinus rhythm with pre - excitation", "Transthoracic echocardiography revealed decreased early diastolic mitral annulus velocity ( E ' velocity ) and abnormal myocardial texture which were possibly associated with the init...	[]	[]	[]	[ "Electromyography revealed sensorimotor polyneuropathy and chronic myopathy", "Biopsy of left vastus lateralis showed neurogenic atrophy and slightly increased lipid vacuoles without paracrystalline inclusion in the mitochondria" ]	[]	[]	[]	[]	[ "21 - year - old" ]	[]	[ "MELAS syndrome" ]	[]
4750557	{'Case report': 'SH is a 44-year-old female diagnosed with mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) at age 32 after suffering a fall at her job that was thought to be secondary to a seizure. After her diagnosis was made, she was initially followed by Neurology; however she was subsequentl...	[]	[]	[ "diagnosed with mitochondrial myopathy, encephalopathy and stroke - like episodes ( MELAS ) at age 32 after suffering a fall at her job that was thought to be secondary to a seizure.", "Her family history is significant for a 12 - year - old daughter who is currently asymptomatic and a sister who also carries the...	[ "a fall at her job that was thought to be secondary to a seizure", "she was no longer able to be employed and her husband became her primary caretaker", "sensorineural hearing loss", "bilateral ophthalmoplegia, ptosis, seizures and stroke - like episodes with concern for dementia", "Her brain MRI demonstrat...	[ "positive results for the A - to - G transition at nucleotide 3243 ( m.3243A > G ) of the mitochondrial genome, with 25 % heteroplasmic deleterious mutation in MT - TL1, a mitochondrial leucine transfer RNA gene", "an echocardiogram demonstrated symmetric left ventricular hypertrophy with normal ventricular systo...	[ "progressive left ventricular hypertrophy ( LVH ) on echocardiogram", "cardiac work - up included an EKG which showed sinus rhythm with frequent normally conducted premature atrial contractions and a Holter monitor that demonstrated episodes of non - sustained atrial tachycardia", "an echocardiogram demonstrate...	[ "no hyperglycemia." ]	[]	[]	[ "myopathy", "bilateral ophthalmoplegia, ptosis" ]	[ "sensorineural hearing loss,", "bilateral ophthalmoplegia, ptosis," ]	[]	[]	[]	[ "44 - year - old" ]	[ "age 32" ]	[ "mitochondrial myopathy , encephalopathy and stroke - like episodes ( MELAS )" ]	[]
4369985	{'CASE REPORT': "In 1986, a previously healthy 18-year-old male presented to our hospital with a 1-week history of fever, headache and vomiting. Meningism, but no focal neurological signs, was noted on examination. Lumbar puncture was performed, revealing slight elevation of protein in the cerebrospinal fluid (CSF) but...	[]	[ "vomiting.", "anorexia" ]	[ "previously healthy", "generalized tonic - clonic seizures", "In 1989, hearing impairment was first documented and ascribed to the previous encephalitis", "recurrent admissions for seizures,", "In 1999, he was diagnosed with diabetes mellitus", "The patient 's sister was admitted to our department in Octo...	[ "headache", "Meningism, but no focal neurological signs, was noted on examination", "slight elevation of protein in the cerebrospinal fluid ( CSF ) but no increased cell count", "right - sided weakness developed", "Electroencephalogram demonstrated left parieto - occipital focal slowing", "Results of T1 /...	[ "slight elevation of protein in the cerebrospinal fluid ( CSF ) but no increased cell count", "Results of T1 / T2 - weighted brain magnetic resonance imaging were reported to be in keeping with an inflammatory process in the left occipital area.", "herpes serology came back negative", "In the initial CSF anal...	[ "Electrocardiogram showed Wolff – Parkinson – White syndrome" ]	[ "diagnosed with diabetes mellitus, requiring insulin straightaway." ]	[]	[]	[]	[ "hearing impairment", "Macular dystrophy, but no signs of diabetic retinopathy, was found on fundoscopy" ]	[]	[]	[]	[ "18 - year - old" ]	[ "18 - year - old" ]	[ "Mitochondrial encephalopathy with lactic acidosis and stroke - like episodes ( MELAS )" ]	[ "treatment with coenzyme Q 10 was started" ]
4776051	{'CASE REPORT': 'A 17-year-old Venezuelan male with a 5-year past medical history of bilateral ptosis came for his regular ophthalmic and general health checkup (Fig. 1 ). He had diplopia, decreased visual acuity and nyctalopia. He was diagnosed with diplopia by a general practitioner 5 years ago since then the patient...	[ "he had a short stature one standard below the mean with a BMI within normal limits." ]	[]	[ "A 17 - year - old Venezuelan male with a 5 - year past medical history of bilateral ptosis came for his regular ophthalmic and general health checkup ( Fig. 1 ). He had diplopia, decreased visual acuity and nyctalopia. He was diagnosed with diplopia by a general practitioner 5 years ago since then the patient has ...	[ "bilateral and partial external ophthalmoplegia with mild limitations in gaze in all directions;", "MRI brain, echo, audiometry, urine analysis, serum creatinine kinase, lactate and pyruvate levels, basic metabolic panel, calcium, magnesium, plasma cortisol levels and thyroid profile were normal", "His CSF prot...	[ "MRI brain, echo, audiometry, urine analysis, serum creatinine kinase, lactate and pyruvate levels, basic metabolic panel, calcium, magnesium, plasma cortisol levels and thyroid profile were normal", "His CSF protein and lactate levels were elevated", "A biopsy of the anterior right tibial muscle showed a highe...	[ "echo, audiometry, urine analysis, serum creatinine kinase, lactate and pyruvate levels, basic metabolic panel, calcium, magnesium, plasma cortisol levels and thyroid profile were normal", "EKG, which unveiled complete right branch block, and a left anterior hemiblock", "The Holter monitor recorded supraventric...	[]	[]	[]	[]	[ "He had diplopia, decreased visual acuity and nyctalopia", "bilateral and partial external ophthalmoplegia with mild limitations in gaze in all directions; visual acuity was four bilaterally with evidence of hypermetric astigmatism.", "On funduscopic examination, bilateral atypical pigmentary retinopathy was se...	[]	[]	[]	[ "17 - year - old" ]	[ "onset of disease before 20 years of age" ]	[ "The diagnosis of KSS was made from the following findings" ]	[]
4831400	{'Case Description': 'Polyhydramnios in the second and third trimester of pregnancy is defined by (semiquantative) measurements such as a maximum vertical pocket (MVP) >8 cm, or an amniotic fluid index (AFI) >24 cm. Approximately 90% of cases are idiopathic or caused by gestational diabetes (GDM) 1 . However, 10% of ca...	[ "835 g ( −0.5 SDS )," ]	[]	[ "A 30‐year‐old primigravid woman, with a so far uneventful pregnancy, was referred to our clinic with polyhydramnios", "Aside from a spontaneously closed ventricular septal defect ( VSD ) in her own infancy, both parents were healthy", "A maternal uncle of the mother had died postnatally of an unknown cause", ...	[ "mild dilatation of both lateral ventricles ( 11 mm ).", "showing an enlarged cisterna magna ( 12 mm ) and a dysplastic and small cerebellum. The transcerebellar diameter measured 25.4 mm ( slightly below p3, with head circumference p50, Fig. 1 A ).", "hypotonic infant", "Cranial ultrasound on first postnatal...	[ "Firstâ€trimester combined test revealed a low risk for trisomies ( NT 1.1 mm ).", "The anomaly scan was performed at 20 weeks GA and showed no abnormalities. Transverse cerebellar diameter was normal at p50.", "More detailed fetal intracranial assessment was possible afterwards, showing an enlarged cisterna m...	[ "spontaneously closed ventricular septal defect ( VSD ) in her own infancy,", "The myocardium was hypertrophic with a small perimembraneous VSD", "Postnatal cardiac ultrasound confirmed the presence of a small VSD", "hypotension", "The VSD in our patient is considered to be a separate finding ( familial tra...	[]	[ "Testes were not palpable in the scrotum" ]	[ "respiratory distress syndrome.", "poor condition with need for mechanical ventilation" ]	[ "He had relatively long and slender arms and legs, large hands, long fingers, small fingernails and somewhat broad distal phalanges", "The lower extremities showed bilateral pes cavus with broad metatarsals and prominent heels", "mitochondrial encephalomyopathy" ]	[]	[ "lack of subcutaneous fat. The muscles and bones were clearly visible. He had mild dysmorphic features with high and arched eyebrows, a hairy forehead, triangular face, a slight upslant of palpebral fissures, down turned corners of the mouth, mild hypoplastic alae nasi, prominent pointed chin, deep incisura between...	[ "First‐trimester combined test revealed a low risk for trisomies ( NT 1.1 mm ). The anomaly scan was performed at 20 weeks GA and showed no abnormalities. Transverse cerebellar diameter was normal at p50. At 25 + 5 weeks of gestation, she presented with signs of polyhydramnios ( uterine size that outpaced gestation...	[]	[ "30‐year‐old" ]	[]	[ "FBXL4 ‐related encephalopathy" ]	[]
4750615	{'Case report': 'The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months. Routine work-up showed significant metabolic acidosis with low serum bicarbonate concentrations. He was started on oral sodium citrate and admitted...	[]	[ "intermittent vomiting, diarrhea, constipation, weight loss" ]	[ "The patient presented at age seven years with intermittent vomiting, diarrhea, constipation, weight loss and fatigue that has persisted for over 18 months", "multiple admissions for ketotic hypoglycemia and severe lactic acidosis" ]	[ "fatigue that has persisted for over 18 months" ]	[ "significant metabolic acidosis with low serum bicarbonate concentrations", "low serum glucose of 3.05 mmol / L ( 55 mg / dL ) and very low plasma l -carnitine ( total carnitine:7 Î¼mol / L, reference range : 25â€“69 ). Serum creatine phosphokinase ( CK ) and transaminases were elevated and continued to increase ...	[ "ongoing cardiac evaluations to monitor for cardiomyopathy or rhythm disturbance have been normal." ]	[]	[]	[]	[ "improved exercise tolerance", "Previously confined to a wheel chair, he started to walk independently and actively" ]	[ "Ophthalmologic and audiologic exams were normal." ]	[]	[]	[]	[ "The patient presented at age seven years" ]	[]	[ "complex III deficiency" ]	[ "coenzyme Q10 , riboflavin , creatine monohydrate , alpha - lipoic acid , and medium chain triglyceride ( MCT ) oil was initiated , while continuing carnitine supplementation . Leucovorin was later added" ]
5301300	{'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and antero...	[ "height 182 cm, weight 80 kg" ]	[]	[ "with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and anterocollis since at least age 40y.", "The family history was positive for diab...	[ "bilateral ptosis since age 23y,", "ophthalmoparesis since at least age 27y,", "Electroneurography at age 27y revealed axonal polyneuropathy", "electroencephalography generalized poly - spike waves in the absence of seizures", "bilateral proximal weakness of the upper limbs, a winging scapula bilaterally, a...	[ "muscle biopsy from the left deltoid muscle showing mild myopathic lesions with increased accumulation of intrafusal glycogen and lipid droplets", "Cerebrospinal fluid ( CSF ) investigations at age 40y revealed elevated protein ( 1008mg / l, n : 150 - 450mg / l ) exclusively", "Transthoracic echocardiography at...	[ "syncope at age 30y", "24h - ECG at age 30y disclosed an intermittent AV - block II", "Transthoracic echocardiography at age 40y revealed mild myocardial thickening", "no indication for heart failure" ]	[]	[]	[ "abnormal respiratory pattern", "Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm", "acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles", "hypercapnia due to muscular...	[ "bilateral ptosis since age 23y,", "anterocollis since at least age 40y.", "bilateral proximal weakness of the upper limbs, a winging scapula bilaterally", "Needle-(electromyography ) EMG of the right anterior tibial muscle at age 40y showed neurogenic alterations", "mild weakness of the lower limbs ( M5-/M...	[ "divergence of the ocular bulbs with double vision since age 6y", "bilateral ptosis since age 23y,", "ophthalmoparesis since at least age 27y", "ptosis, ophthalmoparesis,", "ophthalmoparesis since age 6y, ptosis since age 23y," ]	[]	[]	[]	[ "45y", "45y" ]	[ "age 6y" ]	[]	[]
5402823	{'Case Report': 'A 52-year-old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence. He has never smoked tobacco or taken alcohol. His parents were first cousins from the Hausa ethnic group. His 78-year-old father...	[]	[]	[ "A 52 - year - old man presented at the National Hospital with 5 years history of progressive imbalance of gait, speech and memory impairment, and occasional urinary incontinence", "He has never smoked tobacco or taken alcohol", "His parents were first cousins from the Hausa ethnic group. His 78 - year - old fa...	[ "patient was oriented and scored 28/30 on the Mini - Mental State Examination Scale", "dysarthria and slow saccades on eye movement", "global hyperreflexia, bilateral ankle clonus, and extensor plantar responses", "Muscle power was 5/5 in all limbs", "glove - and - stocking sensory loss and bilateral cerebe...	[ "full blood count, serum chemistry, fasting glucose, lipid profile, thyroid function tests, serum Vitamins E and B12 levels, and electrocardiogram were all normal", "brain magnetic resonance imaging revealed brainstem atrophy with normal spinal cord, cerebellum, and cerebral hemispheres", "Each of the three sam...	[]	[]	[]	[]	[ "Muscle power was 5/5 in all limbs." ]	[ "and slow saccades on eye movement. Visual acuity was 6/18 in both eyes, and fundoscopy showed bilateral peripapillary atrophy" ]	[]	[]	[]	[ "52 - year - old" ]	[]	[ "SCA7" ]	[]
5128397	{'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2...	[]	[ "nausea," ]	[ "A 48 - year - old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word - finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness.", "Her medical history was significant for essential hypertension, poorly controlled type 2 ...	[ "presented to a local hospital with subacute onset of confusion and word - finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness.", "her symptoms initially stabilized, but in the following week, the patient 's confusion worsened, and she developed clumsiness and sti...	[ "Computed tomography ( CT ) revealed a hypodense lesion within the left temporal lobe ( edema ) involving gray matter and white matter ( Fig. 1 ). Magnetic resonance imaging ( MRI ) demonstrated left temporal lobe diffusion signal abnormality and fluid - attenuated inversion recovery ( FLAIR ) hyperintensity predom...	[ "essential hypertension" ]	[ "poorly controlled type 2 diabetes mellitus" ]	[]	[]	[]	[ "dizziness", "bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years", "blurred vision," ]	[]	[]	[]	[ "48 - year - old" ]	[]	[ "MELAS syndrome" ]	[ "high - dose intravenous arginine then oral citrulline at 0.5 mg / kg" ]
5313432	{'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochon...	[]	[ "vomiting" ]	[ "The patient was a 41 - year - old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age", "He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochondria...	[ "generalized convulsions, insomnia, and depression", "ischemic stroke at 33 years of age", "epileptic seizure with epileptic encephalopathy at 37 years of age.", "myoclonus in the distal extremities, gait disturbance, and dysarthria at 41 years of age.", "impaired consciousness", "gaze nystagmus, cerebell...	[ "routine blood tests including blood sugar and autoimmune antibodies were normal. A laboratory examination showed slightly increased serum pyruvic acid levels ( 1.2 mg / dL ), but his serum lactate levels were normal ( 14.2 mg / dL ). The cerebrospinal fluid lactate ( 34.8 mg / dL ) and pyruvic acid ( 1.6 mg / dL )...	[]	[]	[]	[]	[]	[ "gaze nystagmus", "no ophthalmoplegia, hearing loss" ]	[]	[]	[]	[ "41 - year - old" ]	[ "20 years of age" ]	[ "MELAS - like encephalopathy" ]	[]
5721577	{'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene...	[ "157 cm in height and 45 kg in weight", "normal body temperature of 36.8 Â° C, a hypotension of 90/56 mm Hg and pulse at 72 beats per minute." ]	[]	[ "The patient was a 37 - year - old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features ( both agitated behavior and auditory hallucinations ), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalize...	[ "psychiatric features ( both agitated behavior and auditory hallucinations ), alexia and apraxia that had begun 10 days ago, followed by disorientation and generalized tonic - clonic seizures. She had a long history of episodic migraine - like headaches", "An electroencephalogram was performed on day 7 and displa...	[ "high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid - stimulating hormone ( TSH ) and free thyroxine ( FT4 ) were decreased. Her TSH level was low at 0.26 mU / L ( normal range 0.35â€“5.5 mU / L ), and FT4 concentration was 7.56 pmol / L ( normal range 10.2â€“31 ...	[]	[]	[]	[]	[]	[ "progressive bilateral hearing loss", "Brainstem auditory evoked potential ( BAEP ) showed the bilateral sensorineural hearing loss." ]	[]	[]	[]	[ "37 - year - old" ]	[]	[ "The final diagnosis of MELAS syndrome was confirmed by genetic analysis ." ]	[ "L - arginine , phenobarbital , co - enzyme Q and levothyroxine substitution therapy ." ]
5415296	{'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w...	[ "A complete blood count and a complete biochemistry panel were performed, and all of the results were within normal limits" ]	[]	[ "A 7 - month - old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play - related problem. The owners â€™ complaints were that the cat had never used the litter tray, and it did not know how to play", "After 3 months, the cat was referred to the neurolog...	[ "house soiling and a play - related problem.", "did not know how to play.", "the cat did not understand the body language of other cats and commonly crashed into other cats or people. It also ‘ tried to bite, catch and scratch the air ’ when playing. It did not find balls or other toys when the owners threw the...	[ "A complete blood count and a complete biochemistry panel were performed, and all of the results were within normal limits. The feline immunodeficiency virus / feline leukaemia virus test was negative.", "A thorax radiograph, abdominal ultrasound, brain magnetic resonance imaging ( MRI; 0.2 T ) and cerebrospinal ...	[]	[]	[]	[]	[ "bilateral carpal valgus" ]	[ "No ophthalmological abnormalities were detected", "based on the behaviours at home described by the owners ( the inability to find some toys, and the behaviour of ‘ scratching and biting the air ’ ), some degree of visual impairment was suspected but not confirmed", "visible suture line in the posterior capsul...	[]	[]	[]	[ "7 - month - old" ]	[]	[ "congenital spongiform polioencephalomyelopathy ( CSP ) was diagnosed postmortem" ]	[]
5680934	{'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing...	[]	[ "poor weight gain with swallowing dysfunction and significant reflux disease" ]	[ "This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia.", "He had poor weight gain with swallowing dysfunction and significant reflux disease", "He st...	[ "He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia", "brachycephalic", "swallowing dysfunction", "started having orofacial and limb dyskinesias at 1.5 years", "refractory multifocal epilepsy at 3 years of age", "Electroencephalogram showed focal and diffus...	[ "magnetic resonance imaging brain scan and chromosomal microarray at 8 months of age, which was normal.", "Whole - exome sequencing and direct sequencing confirmed that he harbored compound heterozygous missense mutations c.3130C > T ( p. Arg1044Cys ), c.3430C > T ( p. Arg1144Cys ), and c.4078G > A ( p. Ala1360Th...	[]	[]	[]	[ "central and obstructive sleep apneas at 3.5 years of age" ]	[ "brachycephalic" ]	[]	[ "hypopigmented hair" ]	[ "He was born at term, weighed 3100 g with good Apgar scores." ]	[]	[ "5 years of age" ]	[ "7 months of age" ]	[]	[]
6511931	{'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l...	[ "' On physical examination, the height and weight of the patient were 154 cm and 56 kg, respectively. Vital signs were normal" ]	[]	[ "A 52 - year - old female presented with a sudden onset of right - sided numbness and weakness that was accompanied by a left temporal cluster - like headache. No fever or prodromal infection was found at disease onset.", "Two months later, the patient was readmitted for subacute cognitive impairment. She was una...	[ "sudden onset of right - sided numbness and weakness that was accompanied by a left temporal cluster - like headache.", "Two months later, the patient was readmitted for subacute cognitive impairment. She was unable to identify and communicate with family members; she also had difficulty understanding questions o...	[ "MRI demonstrated a lamellar left parietal lobe lesion predominantly involving the cortex, with hyperintensity on both diffusion - weighted imaging and fluid - attenuated inversion recovery ( Figure 1 ). The apparent diffusion coefficient map revealed a preserved, isointense signal. No abnormalities were found by s...	[]	[]	[]	[]	[ "lack of symptoms of muscle weakness or pain", "no other signs suggestive of myopathy" ]	[]	[]	[]	[]	[ "52 - year - old" ]	[]	[ "m.10158T > C mutation in the MT - ND3 gene" ]	[]
6971469	{'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to...	[ "On admission to the ICU, the vital signs were as follows : body temperature, 39 Â° C; blood pressure, 150/80 mmHg; heart rate, 150 b.p.m.; respiratory rate, 30 breaths / min; and SpO2, 99 % ( FiO 2 40 % )" ]	[]	[ "A 24â€yearâ€old woman who had been diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokeâ€like episodes was admitted to our hospital with impaired consciousness and myoclonus." ]	[ "mildly impaired consciousness and myoclonus in the extremities", "myoclonic movement in the extremities, mandible, and trunk", "Brain magnetic resonance imaging showed bilateral high‐intensity lesions in the temporal and parietal lobes of the cortical and subcortical areas in T2 weighted imaging", "impaired ...	[ "Genetic testing revealed a 3271 T > C transition in the MT‐TL1 gene", "A laboratory examination showed increased serum pyruvic acid ( 2.1 mg / dL ) and lactate ( 75 mg / dL )", "Brain magnetic resonance imaging showed bilateral high‐intensity lesions in the temporal and parietal lobes of the cortical and subco...	[]	[]	[ "urine appeared brown", "PRIS" ]	[]	[ "Muscle weakness was detected in the upper and lower limbs bilaterally", "urine appeared brown", "PRIS" ]	[]	[]	[]	[]	[ "24‐year‐old", "24‐year‐old" ]	[]	[ "diagnosed with MELAS at 21 years of age . Genetic testing revealed a 3271 T > C transition in the MT‐TL1 gene , clinically confirming the diagnosis of MELAS", "diagnosed with mitochondrial myopathy , encephalopathy , lactic acidosis , and stroke‐like episodes" ]	[ "L‐arginine , coenzyme Q10 , and L‐carnitine aimed at supporting mitochondrial energy production were given", "We continued coenzyme Q10 , L‐carnitine , and L‐arginine for mitochondrial support for MELAS" ]
6197309	{'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat...	[ "normal vital signs and a body - mass index of 25 ( height : 1.65 m, weight : 68 kg )." ]	[]	[ "A 50 - year - old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostate Symptom Scor...	[ "did not include cognitive impairment nor seizures", "neurological examination was normal except for mild muscle weakness at the end of the day" ]	[ "serum prostate specific antigen of 9.45 ng per milliliter on routine screening.", "urinalysis was negative for pyuria or microscopic hematuria", "common MERRF mitochondrial DNA mutation ( A8344 G ) in his blood", "prostate biopsy revealing grade group 2 adenocarcinoma ( Gleason score 3 + 4 = 7 ) at the left ...	[ "hypertension and hypercholesterolemia" ]	[]	[ "serum prostate specific antigen of 9.45 ng per milliliter on routine screening.", "mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostate Symptom Score of 14/35", "no erectile dysfunction with a normal International Index of Erectile Function score ( 24/25 )."...	[]	[ "exercise intolerance and mild muscle atrophy", "mild muscle weakness at the end of the day." ]	[]	[ "symmetric lipomas in his cervical region", "multiple symmetric lipomatosis", "large, painless, symmetrical cervical lipomas", "cervical lipomas", "neck lipomas" ]	[]	[]	[ "50 - year - old" ]	[]	[ "common MERRF mitochondrial DNA mutation ( A8344 G )" ]	[]
6302035	{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d...	[]	[]	[ "The patient was a 22 - year - old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure", "one of her father 's cousins had a para - aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain...	[ "headache." ]	[ "Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits", "New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in cl...	[ "cardiac paraganglioma with left coronary artery involvement.", "recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension", "Ambulatory blood pressure monitoring found severe hyp...	[]	[]	[]	[]	[]	[]	[]	[]	[ "22 - year - old" ]	[]	[ "The genetic study showed a succinate dehydrogenase subunit B mutation ." ]	[]
6143699	{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing he...	[]	[]	[ "A 57 - year - old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her abilit...	[ "wheelchair for ambulation.", "peripheral neuropathy, ataxia,", "myoclonus" ]	[]	[ "cardiomyopathy" ]	[]	[]	[ "these painful masses, which were obstructing her ability to breath and sleep" ]	[ "muscle weakness," ]	[]	[ "multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs", "She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back.", "Multiple symmetric large, variably sized tender masses were easi...	[]	[]	[ "57 - year - old" ]	[]	[ "myoclonus epilepsy with ragged red fibers ( MERRF )" ]	[]
6531061	{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proban...	[ "The highest temperature was 37.8 Â° C" ]	[ "vomiting 4 to 5 times on the same day," ]	[ "A 12 - year - old boy was admitted to Shaoxing People 's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence" ]	[ "a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking", "and somnolence.", "insufficient spirits.", "His electroencephalogram showed clear increase of 4–5c / s theta waves, 2–3c / s delta waves, with a small amount of sha...	[ "proband carried the pathogenic heteroplasmic mutation A3243 G mutation in mitochondrial 12S rRNA gene", "His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right ( Fig. 1 A ). A large lactate peak and decreased N -acetylaspartate were found in this re...	[]	[]	[]	[]	[ "muscle tension was identified as grade V." ]	[]	[]	[ "born at 38 weeks gestation by spontaneous delivery", "had no postnatal adaptation" ]	[]	[ "12 - year - old", "12 - year - old" ]	[]	[ "mitochondrial encephalomyopathy . The proband carried the pathogenic heteroplasmic mutation A3243 G mutation in mitochondrial 12S rRNA gene .", "mitochondrial encephalomyopathy" ]	[ "Intravenous arginine", "coenzyme Q10" ]
2910953	{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also...	[]	[]	[ "A 20 - year - old Turner syndrome ( TS ) patient with Neurofibromatosis 1 ( NF1 ) and Tuberous sclerosis complex ( TSC ) was apparently normal till five years of age." ]	[ "developmental milestones were within normal limits", "no history of seizures", "Plexiform Neurofibroma" ]	[ "normal uterus and ovaries in pelvic ultrasound.", "Chromosome analysis of the patient confirmed with 45, XO Karyotype" ]	[]	[ "menarche at 12 years of age with regular menstrual cycles" ]	[ "attained menarche at 12 years of age with regular menstrual cycles", "patient studied had also shown menstruation regularly with normal breast development" ]	[]	[ "short stature", "cubitus valgus deformity" ]	[ "high arched palate" ]	[ "small skin lesions of the size of pin head over the face which gradually increased in size and number.", "swelling over the left forearm, about the size of a marble, which gradually increased", "Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café - au - lait spots ...	[]	[]	[ "20 - year - old" ]	[ "five years of age" ]	[ "Turner syndrome ( TS ) patient with Neurofibromatosis 1 ( NF1 ) and Tuberous sclerosis complex ( TSC )" ]	[]
2526489	{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon ...	[ "thrombocytopenia with a platelet count less than 10Ã—10 9 /L" ]	[]	[ "A 3 - yr - old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10Ã—10 9 /L", "was diagnosed as having WAS" ]	[]	[ "large deletion in the exon 1 to 11 of the WAS gene" ]	[]	[]	[]	[]	[]	[]	[ "eczema," ]	[]	[]	[ "3 - yr - old" ]	[]	[ "WAS with a large deletion in the exon 1 to 11 of the WAS gene" ]	[]
2719213	{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ...	[ "thrombocytopenia ( 23,000/ÂµL )", "neonatal thrombocytopenia at birth" ]	[ "diarrhea" ]	[ "Patient 1 ( UPN 1 ) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia ( 23,000/ÂµL ) with skin eczema and severe, recurrent otitis media and diarrhea on admission", "The second male patient ( UPN 2 ) presented with neonatal thrombocytopenia at b...	[]	[ "Flow cytometric analysis of peripheral blood mononuclear cells ( PBMC ) for these 2 patients revealed a defect in WASP", "the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis", "an absolute neutrophil count ( ANC ) of more than 500/µL on days 31 and 13 and a platelet count of mo...	[]	[]	[]	[ "respiratory distress with hypoxemia due to pulmonary edema" ]	[]	[]	[ "skin eczema", "skin eczema and recurrent infections such as cellulitis", "skin rashes on the trunk in the pre - engraftment period", "Both patients were clinically well without eczematous skin" ]	[]	[]	[ "5 months", "3 months old ." ]	[ "at birth" ]	[ "with" ]	[]
2927793	{'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHE...	[]	[]	[ "XY2 is a boy of seven years of age with X - linked hypophosphatemia", "He inherited this genetic disorder from his mother, who in turn inherited it from her father", "XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at scho...	[ "suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag.", "intellectually gifted ( WISC - III Full Scale IQ : 135, Verbal IQ : 136, Performance IQ : 133 )", "DSM - IV - diagnosis of AD, confirmed by the A...	[ "molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G > A(G579R ) missense mutation in exon 17 of the PHEX gene in all subjects" ]	[]	[ "lack of growth." ]	[]	[]	[]	[]	[]	[]	[]	[ "seven years of age" ]	[]	[ "X - linked hypophosphatemia" ]	[]
3758736	{'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me...	[ "the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm", "Arterial oxygen saturation ( SpO 2 ) was 94 %.", "The heart rate was 146 / min. The respiratory rate was 26 / min. Non - invasive blood pressure was 73/44 ( 54 ) mm Hg." ]	[ "no history of fever, rash, abdominal pain, constipation", "Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt", "and liver function were within the reference range." ]	[ "Our case was a 1 - year 5 - month - old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath - holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membra...	[ "no history of fever, rash, abdominal pain, constipation or alteration of sensorium.", "conscious and alert", "Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal.", "No abnormalities were detected on the electroencephalogram" ]	[ "The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g / dl ( normal 10.5 - 14 g / dl ), packed cell volume, mean corpuscular volume ( MCV ) and mean corpuscular hemoglobin were low at 31.9 % ( normal 32 - 42 % ), 6...	[ "Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs.", "cardiovascular systems were normal." ]	[]	[ "reddish discoloration of the nappies and clothes", "no abnormal odor of the skin or urine.", "no history of crying while passing urine, poor urinary stream", "Urine was of normal color when voided but turned black over variable periods spontaneously" ]	[ "breath - holding spells.", "normal chest movements with equal air entry on both sides" ]	[ "musculoskeletal system, skin, and cardiovascular systems were normal" ]	[]	[ "no abnormal odor of the skin", "no history of fever, rash,", "no jaundice or dehydration or abnormal odor", "skin, and cardiovascular systems were normal." ]	[]	[]	[ "1 - year 5 - month - old" ]	[]	[ "alkaptonuric" ]	[ "low phenylalanine and tyrosine diet ," ]
3764967	{'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation reve...	[ "thrombocytopenia ( platelets 10.3 Ã— 10 4 / Î¼l )" ]	[ "sudden rectal hemorrhage", "no previous significant rectal bleeding.", "abdomen was soft and flat; a non - tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin", "extremely enlarged liver and spleen." ]	[ "A 21 - year - old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009", "no previous significant rectal bleeding.", "His past medical history was unremarkable except for occasional nasal bleeding during childhood" ]	[ "Neurologic examination revealed no evidence of abnormalities" ]	[ "thrombocytopenia and slight leukocytopenia ( platelets 6.7 Ã— 10 4 /Î¼l, white blood cells 3,180 / Î¼l ). Other laboratory findings disclosed : total bilirubin 1.4 mg / dl ( reference range 0.2â€“1.3 ), direct bilirubin 0.5 mg / dl ( reference range 0â€“0.3 ), and prothrombin time activity 77.0 % ( reference range...	[]	[]	[]	[]	[]	[]	[]	[]	[]	[ "21 - year - old" ]	[]	[ "Gaucher disease type 1" ]	[ "enzyme replacement therapy ( ERT ) . 60 U / kg body weight imiglucerase , a macrophage - targeted recombinant human glucocerebrosidase , was injected every 2 weeks" ]
3446141	{'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomitin...	[ "length measured 50 cm ( < 5 th percentile ), weight 3000 g ( < 5 th percentile ), and head circumference 36.5 cm ( 5â€“10 th percentile ). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission" ]	[ "cholestasis and severe intractable vomiting", "jaundice and vomiting", "recurrent vomiting, poor feeding and cholestasis", "with recurrent vomiting and poor intake which led to poor weight gain.", "Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days ...	[ "45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances", "A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis.", "Problems started from third day of life with recurrent ...	[]	[ "Sepsis workups including blood culture and urine culture were performed, which later results showed both negative", "tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all i...	[]	[]	[ "electrolyte disturbances", "Hyponatremia and hyperkalemia", "with female appearing genitalia", "External genitalia seemed normal female type", "serum sodium 102 meq / lit and serum k + level 9 meq / lit.", "Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detecte...	[]	[]	[ "sclerae and skin were obviously jaundiced", "Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive" ]	[ "pallor and decreased subcutaneous fat and ill appearance with severe dehydration", "skin were obviously jaundiced" ]	[ "It was a product of consanguineous parents with birth weight of 3300 grams" ]	[]	[ "45 days old" ]	[ "third day of life" ]	[ "congenital adrenal hyperplasia ." ]	[ "Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting", "Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement . Electrolyte abnormalities and blood sugar was corrected during first week of treatment ( Na=130 and K=4.5 Meq /...
3778801	{'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe...	[ "pulse rate was 102 / min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25 / min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm" ]	[ "no hepatosplenomegaly" ]	[ "An eleven month old female child, born of a primigravida mother of non - consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also not...	[ "developmental history were normal.", "Neurological examination was normal.", "without neurological involvement", "Bright red fluorescence was also noted in the urine, teeth and blood under wood 's lamp" ]	[ "Complete blood count showed mild anemia; Hb-9.2 mg / dl, total leucocyte count-8,200 and platelet count of 1.4 lac / cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2 % of circulating erythrocytes ( normal upto 2 % ). Liver and renal function tests were normal. E...	[]	[]	[ "red colored urine for last three months.", "red colored urine", "Bright red fluorescence was also noted in the urine, teeth and blood under wood 's lamp" ]	[]	[ "without neurological involvement and evidence of arthritis" ]	[]	[ "history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage", "some pallor", "Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs a...	[ "born of a primigravida mother", "Birth and developmental history were normal." ]	[]	[ "eleven month old" ]	[ "since two months of age ." ]	[ "of congenital erythropoietic porphyria" ]	[]
3635963	{'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs withi...	[]	[ "Spleen enlargement was also observed" ]	[ "We report on a 5 - year - old girl with a history of pink - stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red - brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within mi...	[]	[ "Urine porphyrins were extremely elevated to 16 μmol / dl with a predominance of coproporphyrins and uroporphyrins", "accumulation of porphyrins in the blood", "A single missense mutation corresponding to a G - to - T transversion ( 11,776 g > t ) in exon 2 was found, leading to an amino acid change from valine...	[]	[]	[ "pink - stained urine as a newborn", "history of pink - stained diapers" ]	[]	[]	[]	[ "episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation ( fig. 1...	[]	[]	[ "5 - year - old" ]	[ "Disease onset occurred in the tenth month of life" ]	[ "CEP" ]	[ "strict avoidance of UV and visible light , use of topical sunscreen ," ]
3683185	{'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent...	[ "anemia" ]	[]	[ "A 20 - year - old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall - out of teeth from time to time since the age of 3–4 years along with persistent thick...	[ "normal mental development," ]	[ "Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia", "Serological tests like anti - nuclear antibody, anti - cytoplasmic neutrophilic antibody, HIV - I and II, and VDRL were negative", "Chest X - ray posterior - anterior view was within normal lim...	[]	[]	[]	[]	[]	[ "frequent dental caries,", "fall - out of teeth from time to time", "poor formation of saliva ( xerostomia ), poor formation of tear ( xerophthalmia ), recurrent conjunctivitis,", "frequent pharyngitis, otitis, rhinitis,", "her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6...	[ "persistent thickening, flaking, and scaling of the skin of her palms and soles", "alopecia", "pyogenic skin lesions", "presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands", "there were symmetrical, well - demarcated, keratotic, and confl...	[]	[]	[ "20 - year - old" ]	[ "since the age of 3–4 years" ]	[ "chronic arsenicosis" ]	[ "standard dose of penicillamine as a chelating agent" ]
3354359	{'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomeg...	[]	[ "upper abdominal discomfort for 15â€“20 days", "pendulous abdomen.", "hepatomegaly", "protuberant abdomen" ]	[ "A 12 - year - old boy was brought to the hospital by his parents with upper abdominal discomfort for 15â€“20 days" ]	[]	[ "USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm – sized, well - defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well - circu...	[]	[]	[ "Multiple small bilateral renal calculi were also noted.", "bilateral renal calculi" ]	[]	[ "retarded growth ( dwarfism )", "clinical features of dwarfism" ]	[]	[ "facial dysmorphism" ]	[]	[]	[ "12 - year - old" ]	[]	[]	[]
3145082	{'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth...	[]	[]	[ "An 18 - month - old boy born after an uncomplicated full - term pregnancy was hospitalized for psychomotor regression and drug - resistant myoclonic epilepsy.", "There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The ot...	[ "psychomotor regression and drug - resistant myoclonic epilepsy.", "myoclonus of the face and upper limbs,", "psychomotor developmental delay.", "macrocephaly of 51 cm", "axial hypotonia with no further optical problems or responsiveness to light", "Cerebral computed tomography ( CT ) scanning performed w...	[ "Cerebral computed tomography ( CT ) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter ( Fig. 1 ). With magnetic resonance imaging ( MRI ) the thalamus was hyperintense on T1 - weighted images and hypointense on T2 - weighted images ( ...	[]	[]	[]	[]	[]	[ "no further optical problems or responsiveness to light.", "cherry - red spot without optic atrophy" ]	[ "dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge" ]	[ "born after an uncomplicated full - term pregnancy" ]	[]	[ "18 - month - old" ]	[ "The onset of clinical symptoms began at the age of 6 months" ]	[ "Sandhoff disease" ]	[]
3371526	{'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The pat...	[ "blood pressure and other vital signs were normal" ]	[]	[ "A 21 - year - old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever", "The patient...	[]	[ "The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X - ray and EKG were also normal", "The feces was negative for occult blood", "Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material through...	[]	[]	[]	[]	[]	[ "mucosa over the hard palate showed small, firm, yellowish - white plaques", "Ocular examination did not reveal any abnormality" ]	[ "pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture,", "multiple brownish - black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over ...	[ "nullipara", "no history of abortion" ]	[]	[ "21 - year - old" ]	[]	[ "PXE" ]	[]
3492685	{'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include...	[ "vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105 / min, and a respiratory rate of 18 / min. His height was 152.5 cm ( < 3th percentile ) and body weight was 72.5 kg. The body mass index was 32.5." ]	[ "dark urine, and jaundice" ]	[ "A 41 - yr - old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community -...	[ "generalized weakness,", "carpal tunnel syndrome," ]	[ "Total and direct bilirubin levels were elevated at 11.6 mg / dL and 8.6 mg / dL, respectively. The AST and ALT levels were 224 and 1,044 U / L, respectively. Serum BUN level was 9.7 mg / dL, and serum creatinine level was 0.82 mg / dL. Serum electrolytes were normal. Based on a positive anti - HAV IgM titer, he wa...	[ "nor hypertension" ]	[ "neither diabetes mellitus", "precocious puberty", "Acanthosis nigricans was present in both axillae,", "central obesity", "rather ambiguous buffalo hump; however, moon face or red stria was not present", "4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal ...	[ "dark urine", "impotence,", "Serum BUN level was 9.7 mg / dL, and serum creatinine level was 0.82 mg / dL. Serum electrolytes were normal.", "impotence was improved" ]	[ "community - acquired pneumonia" ]	[]	[]	[ "hirsutism", "Acanthosis nigricans was present in both axillae", "erythematous, scaly, guttate papules on the lower abdominal skin", "rather ambiguous buffalo hump; however, moon face or red stria was not present" ]	[]	[]	[ "41 - yr - old" ]	[ "age of 7" ]	[ "Gene analysis revealed CAH due to 21 - hydroxylase deficiency" ]	[ "administration of adrenal steroids . After 6 months of treatment with dexamethasone ( 0.25 mg daily ) , bilateral adrenal hyperplasia and tumorous growth in left adrenal gland were substantially decreased in size ( Fig . 2C , D ) . 17 - OHP and ACTH levels were normalized to 118 ng / dL and 20.8 pg / mL , respecti...
3808070	{'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb...	[ "normal complete hemogram ( including hemoglobin, total leukocyte count, differential leukocyte count )," ]	[ "recurrent episodes of diarrhea" ]	[ "The second case was of a 28 - year - old male who was born of a non - consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs...	[ "delayed psychomotor milestones with mental retardation", "progressive spastic diplegia, tremulousness in both upper limbs and scanning speech.", "impaired attention, vigilance, comprehension, and new learning ability.", "Pan - sensory impairment was noted below knee with impaired limb coordination in upper l...	[ "Patient 's skin biopsy of swelling over Achilles confirmed xanthoma", "MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids", "Blood investigations revealed a normal complete hemogram ( including hemoglobin, total leukocyte ...	[]	[]	[ "gradually progressive bladder dysfunction" ]	[]	[ "thoracic kyphosis with contractures at hip, knee, and ankle joints" ]	[ "congenital cataract," ]	[ "skin biopsy of swelling over Achilles confirmed xanthoma.", "firm, non - tender swellings over ankles, patella, and elbows bilaterally", "homogenous soft tissue swelling." ]	[]	[]	[ "28 - year - old", "50 - year - old" ]	[ "since early childhood" ]	[ "CTX" ]	[ "atorvastatin besides physical therapy and chenodeoxycholic acid ( CDCA ) is being arranged" ]
3891287	{'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl...	[]	[]	[ "A 5 year - old boy was referred to the Pediatric Dentistry Clinic with the complaint of \" a small ball that appeared in the mouth \"", "The child was the third twin; however, the parents as well as the siblings, did not have the metabolic disorder" ]	[]	[ "Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino - enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge" ]	[]	[ "hypophosphatemic vitamin D - resistant rickets" ]	[]	[]	[ "short stature and several skeletal abnormalities" ]	[ "small ball that appeared in the mouth", "fistula at the periapical region of primary maxillary left lateral incisor without caries or trauma", "complete primary dentition and none of the teeth examined showed evidence of caries" ]	[]	[]	[]	[ "5 year - old" ]	[]	[ "hypophosphatemic vitamin D - resistant rickets" ]	[ "calcitriol and phosphate supplements" ]
3768190	{'General and extra-oral examination': "On general examination, the patients were moderately built with a steady gait. The physical and mental development was also normal. The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected. Medical history was non-...	[ "gingival bleeding during brushing and eating, after the eruption of permanent teeth", "gingiva, with excessive bleeding", "bleeding on probing with deep periodontal pockets." ]	[]	[ "The family history revealed consanguineous marriage of the parents. The parents and other family members were not affected", "Medical history was non - contributory", "Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth, for which the parents did...	[ "steady gait", "mental development was also normal" ]	[ "The radiographic examination using panoramic and periapical films showed severe alveolar bone loss up to the apical third region of the roots of the permanent teeth that were present, giving them the characteristic “ floating - teeth ” appearance. On lateral cephalogram, there was no evidence of intracranial calci...	[]	[]	[]	[]	[]	[ "resorption of the alveolar ridge", "deciduous teeth had erupted normally, but there had been early shedding, starting at age of 3 years and complete shedding of all deciduous teeth by the age of 6 years. The mother reported that all of the patient 's primary teeth were prematurely lost due to hypermobility. Ther...	[ "eruptions on the scalp, legs, feet, arms, and hands at birth", "reddening of the palms and soles at 6 months of age, which gradually thickened and became rough and scaly. These symptoms were worse during the winter season", "increased keratinization of the skin of the palmar and plantar surfaces as well as the...	[ "Mother had a full term normal uneventful pregnancy.", "Natal history revealed that the patients presented with eruptions on the scalp, legs, feet, arms, and hands at birth," ]	[]	[ "11 - year - old", "16 - year - old", "16 - year - old" ]	[ "at birth", "1 st year of life" ]	[ "PLS" ]	[]
3445650	{'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark...	[ "height : 145 cm, weight : 46 Kg, body mass index ( BMI ): 21.8, Tanner staging : 1" ]	[]	[ "family 's concern about her ambiguous genitalia", "surgery ( vaginoplasty ) when she was 3 years old", "she had been admitted in hospital 2 times because of electrolytes imbalance", "The case is a 14 - year old girl with male phenotype who is a known case of congenital adrenal hyperplasia" ]	[ "good strength and excessive fatigue after exercise" ]	[ "karyotype was XX" ]	[]	[ "girl with male phenotype", "voice deepening and short stature", "Tanner staging : 1 ( Fig. 1 ), lack of menstrual period, clitoral enlargement", "ambiguous genitalia", "admitted in hospital 2 times because of electrolytes imbalance", "excessive fatigue and vomiting due to electrolytes imbalance" ]	[ "girl with male phenotype", ", lack of menstrual period, clitoral enlargement,", "ambiguous genitalia," ]	[]	[ "increased muscle bulk", "short stature.", "prolonged dysfunction due to her ankle sprain" ]	[]	[ "hirsutism", "dark skin" ]	[]	[]	[ "14 - year old" ]	[]	[ "Congenital Adrenal Hyperplasia ( C.A.H ) due to 21 hydroxylase deficiency" ]	[ "In her drug history , she had been using 30 mg hydrocortisone daily in three divided doses ( 15.8 mg / m 2 · d ) plus 100 mg fludrocortisone daily in 2 divided doses , but recently her drug doses had been changed to 7/5 mg prednisolone in the morning and 5 mg at night" ]
3916717	{'Case presentation': "We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycob...	[ "mild thrombocytopenia, a bone marrow ( BM ) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells ( GCs )", "thrombocytopenia" ]	[ "diarrhea, poor appetite" ]	[ "consultation concerning suspected Gaucher disease", "partial resection of the right lung due to an aspergilloma" ]	[ "mild tremor" ]	[ "mutations of c.1226A > G ( N370S ) and RecNci I ( L444P, A456P, and V460V ) in the GBA1 gene", "recurrent positivity for M. avium and A. fumigatus was detected", "bone marrow ( BM ) examination was performed at the age of 51, disclosing the presence of foamy macrophages classified as Gaucher cells ( GCs ).", ...	[]	[]	[]	[ "recurrent pulmonary aspergillosis caused by Aspergillus fumigatus", "chronic cough", "mild pulmonary fibrosis and aspergillosis in the right lung", "microbiological examination of secretions from a bronchoalveolar lavage ( BAL ) showed growth of Aspergillus fumigatus and mycobacteria other than tuberculosis ...	[]	[]	[]	[]	[]	[ "65 - year - old" ]	[]	[ "GD1", "Gaucher disease" ]	[ "miglustat , which was considered the first line of GD1 treatment at that time due to the worldwide supply shortage of Cerezyme ® during 2009–2010 ( 9 ) . He received the commercially available miglustat capsules at a dose of 100 mg three times a day orally .", "After the Cerezyme ® supply shortage had ceased , t...
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	[ "As a 3 - week - old neonate, she received a blood transfusion for, it was believed, hemolytic anemia of the newborn. In all three of her hospital admissions, a mild hemolytic anemia was diagnosed", "moderate hemolytic anemia was also found ( red blood cells : 3.68 Ã— 10 6, hemoglobin : 10.6 g / dl, hematocrit : ...	[]	[ "At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine.", "hemolytic anemia of the newborn", "At the age of 6 years, she was again admitted for investigation, on this occasion with a main complaint of easy skin blistering and scarring. It was noted that the ...	[ "intellectual development was normal" ]	[ "moderate hemolytic anemia was also found ( red blood cells : 3.68 × 10 6, hemoglobin : 10.6 g / dl, hematocrit : 33.0 %, MCV 89.7, MCH 28.8 pg, MCHC 32.1 G / DL, platelets 124 × 10 3 ml, white blood cells : 3.6 × 10 3, reticulocytes : 58 ( 5 - 15 ) ),", "urea, creatinine, uric acid, electrolytes, and alkaline ph...	[]	[]	[ "episodes of red urine.", "intensity of the red coloration of the urine varied from day to day.", "Ultrasound examination of the kidneys and heart were normal" ]	[]	[]	[ "lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust", "teeth have progressively stained brownish - red" ]	[ "easy skin blistering and scarring", "multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back", "severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands.", "scarring of her skin at sun - expose...	[ "born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively" ]	[]	[ "14 years" ]	[ "3 - week - old" ]	[ "These results confirmed a diagnosis of CEP" ]	[ "6 months ," ]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	[ "His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84 / min, respiratory rate of 24 / min, and body temperature of 36 â„ƒ." ]	[ "become nauseated, and vomited", "nauseated, and developed severe vomiting.", "recurrent abdominal pain", "no evidence of gastrointestinal bleeding", "no evidence of chronic liver disease" ]	[ "A 59 - yr - old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. T...	[ "progressive lethargy and confusion since the early morning.", "fatigue over the previous 3 months.", "failed to arise at his normal time and exhibited inappropriate behavior and drowsiness.", "periodic episodes of convulsions", "not experienced any seizures in adulthood", "was in a semi - coma; his Glasg...	[ "Laboratory investigations showed that he had hyperammonemia ( 143.8 mM ), elevated liver enzymes ( alanine aminotransferase, 179 U / L; aspartate aminotransferase, 91 U / L ), a total bilirubin level of 1.91 mg / dL, and a blood glucose level of 106 mg / dL. His blood urea nitrogen and serum creatinine levels were...	[]	[]	[]	[]	[]	[]	[]	[]	[]	[ "59 - yr - old" ]	[]	[ "late - onset ornithine carbamoyltransferase deficiency" ]	[ "arginine ( 3 g ) and sodium benzoate ( 3 g ) were administered via nasogastric tube every 4 - 6 hr . Dextrose solution ( 10 % ) was supplied intravenously , and a protein - free formula was supplied via a feeding tube", "He continued to receive sodium benzoate ( 3 g ) and arginine ( 3 g ) three times daily . The...
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	[ "Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits", "bleeding gums." ]	[]	[ "An 18 - year - old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi - Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguine...	[]	[ "Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds", "Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits", "Orthopantomograph showed severe horizontal bone loss.." ]	[]	[]	[]	[]	[]	[ "more teeth present", "generalized mobility of teeth and bleeding gums.", "patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility." ]	[ "considerable hyperkeratosis of palms and soles", "marked palmoplantar hyperkeratosis", "Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.", "bilateral hyperkeratosis of ...	[]	[]	[ "18 - year - old" ]	[ "age of 2 - 3 years ." ]	[ "Papillon - Lefevre syndrome" ]	[]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	[ "height of 158 cm ( â€“ 1 SD ), weight of 85 kg ( > 2 SD ), body mass index ( BMI ) of 34.13 kg / m 2 ( greater than the 97th centile ) and blood pressure of 150/80 mmHg." ]	[]	[ "A 15 - yr - old male patient was referred to our department with a one - year history of gradual worsening of tremors.", "healthy, second - degree consanguineous parents", "He was diagnosed, at 40 d old, with salt - wasting 21 - hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome", "hyp...	[ "Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline", "Brain MRI showed bilateral periventricular white matter hyperintensity on T2 - weighted and fluid - at...	[ "17 - OH progesterone level of 215 ng / ml,", "Detailed investigations ( renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11 - Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia ) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertensio...	[ "hypertension" ]	[ "salt - wasting", "acute dehydration, salt loss syndrome", "Two adrenal crises occurred at one and nine years of age", "Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative" ]	[]	[]	[]	[ "ophthalmologic were normal" ]	[]	[ "He was born at term, weighing 2,900 g," ]	[]	[ "15 - yr - old" ]	[ "40 d old" ]	[ "with salt - wasting 21 - hydroxylase deficiency CAH" ]	[ "hydrocortisone , fludrocortisone and salt" ]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	[]	[ "vomiting and diarrhea" ]	[ "A 33 - year - old G2P1 woman presented to our obstetric unit at 17 weeks ' gestation for antenatal care of her second pregnancy", "Upon reevaluation of family history, however, the parents revealed that their 27 - month - old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36 +...	[]	[ "Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median ( MoM ) with low alpha - fetoprotein ( AFP ) and human chorionic gonadotropin ( hCG ) level, 0.6 MoM and 0.52 MoM, respectively", "karyotype by amniocentesis was 46,XX", "Level II ultrasonography after 21 weeks ' ges...	[]	[]	[ "normal female external genitalia" ]	[]	[]	[]	[]	[ "G2P1", "17 weeks ' gestation", "second pregnancy", "Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median ( MoM ) with low alpha - fetoprotein ( AFP ) and human chorionic gonadotropin ( hCG ) level, 0.6 MoM and 0.52 MoM, respectively", "Level II ultrasonography afte...	[]	[ "33 - year - old" ]	[ "Four months after birth" ]	[ "CLAH" ]	[ "treatment of mineralocorticoid and hydrocortisone ." ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	[ "Her height was 110 cm ( 10 - 25th percentile ), weight 23 kg ( 75 - 90th percentile ).", "Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39 / min, pulse rate was 112 / min and body...	[ "poor weight gain", "without history of vomiting or diarrhea" ]	[ "Orchiectomy", "A 28 - day - old phenotypic female infant was admitted to pediatric endocrinology clinic of Al - Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full - term infant with a birth weight of 3250 gr ( 50 th percentile ), length ...	[ "lethargy", "lethargic", "lethargic", "depressed fontanele" ]	[ "Ultrasonographic examination revealed small hypoplastic uterus ( 6 * 7 * 3 ml ) or atretic ovaries and adrenal glands had normal sizes", "normal laboratory results except for 17 OHP which was lower during the period", "Renal Doppler ultrasonography and scan was performed which was normal", "Ultrasonography r...	[ "high blood pressure", "mild dehydration and decreased skin turgor." ]	[ "adrenal glands had normal sizes", "decreased cortisol level and increased ACTH level", "adrenal insufficiency" ]	[ "small hypoplastic uterus ( 6 * 7 * 3 ml ) or atretic ovaries", "hyponatremia, hyperkalemia", "testicles in the abdominal cavity and uterus was not detected in pelvis", "External genitalia seemed normal female type with no ambiguity" ]	[]	[]	[ "mild hyperpigmentation, including oral cavity." ]	[ "no hyperpigmentation", "decreased skin turgor.", "mild hyperpigmentation, including oral cavity." ]	[ "full - term infant with a birth weight of 3250 gr ( 50 th percentile ), length of 51 cm ( 50 th percentile ) and head circumference of 34 cm ( 50 th percentile).The patient had no perinatal problem." ]	[]	[ "28 - day - old" ]	[ "28 - day - old" ]	[ "lipoid CAH" ]	[ "replacement therapy with standard doses of glucocorticoid ( hydrocortisone ) and mineralocorticoid ( fludrocortisone ) and sodium chloride was initiated . After replacement therapy , electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition...
3917216	{'Microbial defects': 'In PLS, neutrophil function test showed reduced response to staphylococcus spp. and Actinobacillus actinomycetemcomitans . There is a hypothesis that herpes viruses together with pathogenic bacteria, including A. actinomycetemcomitans and underlying host defense disorders, participate in the deve...	[ "and bleeding gum" ]	[]	[ "A 14 - year - old girl, visited to outpatient Department of Periodontia, Government Dental College and Hospital, Ahmedabad, India with chief complain of premature loss of deciduous and permanent teeth and mobility in remaining teeth", "History revealed that her deciduous teeth had erupted normally, but exfoliate...	[]	[ "serum of the patients showed high immunoglobulin G ( IgG ) titer against A. actinomycetemcomitans. Moreover, A. actinomycetemcomitans colonies were cultured in high percentages from the pocket samples", "serum IgG titers against A. actinomycetemcomitans decreased in the patients", "Orthopantogram showed extens...	[]	[]	[]	[]	[ "The fingers were pointed giving clawed appearance" ]	[ "edentulous area between teeth 44 and 33 and 11, 21 and 22 were also missing. Edentulous maxillary and mandibular ridges were covered with normal mucosa. The teeth present were 12, 13,14,15,16,22, 24, 25, 26, 33, 34, 35, 36, 44, 45 and 46 covered with soft deposits and band of subgingival calculus. Gingiva was fier...	[ "well - demarcated, yellowish, keratotic plaques over the skin of palms and soles extending on to the dorsal surfaces. Skin of both palms and soles was peeling off leaving underlying red shiny area suggestive of keratoderma. Well circumscribed, psoriasiform, erythematous, scaly plaques were also present on the elbo...	[]	[]	[ "14 - year - old" ]	[ "2 years" ]	[]	[]
3481798	{'CASE REPORT': 'A 4-year-male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy. His birth was at full-term from an uneventful pregnancy. On detailed history the child attained head holding at 6 months, sitting witho...	[ "normal head circumference for his age" ]	[]	[ "A 4 - year - male child born from a consanguineous marriage presented to the pediatrics department with complaints of delayed development and a skin ailment since infancy." ]	[ "delayed development", "child attained head holding at 6 months, sitting without support at 1 year age and walking with support at 2 years. Stiffness in lower limbs started in later part of the first year of life with progressive increase up to the time of presentation", "mental retardation, increased tone in b...	[ "Chest radiograph and all routine hematological investigations were normal.", "The MRI showed diffuse and symmetrical high signal intensity on T2W sequence in bilateral deep periventricular white matter in the frontal and parietal lobes and in the corona radiata. These areas were hypointense on T1W sequence. Subc...	[]	[]	[]	[]	[ "Skeletal, dental, eye/ fundus examination and eye or limb movements were normal" ]	[ "dental, eye/ fundus examination and eye or limb movements were normal" ]	[ "skin ailment", "scaly ichthyotic lesions with severe pruritus presently affecting all body parts and which started in late infancy on the face" ]	[ "His birth was at full - term from an uneventful pregnancy." ]	[]	[ "4 - year - male" ]	[ "since infancy" ]	[ "Sjogren - Larsson syndrome" ]	[]
3088948	{'Case 2': "A 13-year-old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem ...	[ "mild anemia ( Hb 8.0 g / dl, reticulocyte count 7 % of circulating erythrocytes )", "reddish colored urine.", "red - colored urine", "mild anemia." ]	[]	[ "A 13 - year - old child, born of consanguineous marriage, presented with photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem in ...	[ "no history of acute neurological attacks", "mental and physical development had been normal." ]	[ "Histopathological examination of an intact bulla revealed the subepidermal location of the blister", "Routine investigations, including liver and renal function tests, were within normal limits except for mild anemia ( Hb 8.0 g / dl, reticulocyte count 7 % of circulating erythrocytes ). ELISA for HIV was negativ...	[]	[]	[ "reddish colored urine.", "red - colored urine" ]	[]	[]	[ "erythrodontia was not spotted with the naked eyes, the teeth revealed a pink - red fluorescence under Wood 's lamp", "teeth were of coppery - red color", "erythrodontia" ]	[ "photosensitivity and recurrent blistering. The blisters were first noticed by the parents at the age of 4–5 years. The blisters were mostly present on exposed areas and used to heal with scarring.", "severe atrophic scars on the face and exposed parts of the extremities, which had resulted in mutilating deformit...	[]	[]	[ "13 - year - old", "3 - year - old" ]	[ "4–5 years", "around 6 months" ]	[ "A diagnosis of CEP was made ." ]	[]
3180982	{'CASE REPORT': 'A 17-year-old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weaknes...	[ "Her heart rate was 120 / min and blood pressure was 100/60 mm Hg. She was breathing at a set rate given by ventilator." ]	[ "chronic intermittent abdominal pain, vomiting, and anorexia for three months" ]	[ "A 17 - year - old female patient weighing 35 Kg presented to emergency department with history of chronic intermittent abdominal pain, vomiting, and anorexia for three months, history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weakness with r...	[ "history of recurrent generalized tonic clonic seizures for 2 days and history of rapidly progressive ascending type of limb weakness", "conscious ( E 4 V T M 1 ) with power of 1/5 in all limbs, plantars were mute, and deep tendon reflexes were absent", "electroencephalography were normal.", "Cerebrospinal fl...	[ "Routine baseline workups including hemogram, blood sugars, liver and kidney function, chest X - ray, electrocardiography, electroencephalography were normal", "Cerebrospinal fluid analysis was normal. Urine Watson – Schwartz test was positive for porphobilinogen. Electrolyte screening showed mild hyponatremia ( ...	[ "postural hypotension, tachycardia, and sweating", "electrocardiography, electroencephalography were normal", "ST segment elevation was noticed on the cardiac monitor and 12 lead ECG was ordered which showed ST segment elevation in lead II. Cardiac enzyme markers were not elevated. Transthoracic echocardiograph...	[]	[]	[ "respiratory distress" ]	[]	[]	[]	[]	[]	[ "17 - year - old" ]	[]	[ "AIP" ]	[ "heme arginate ( 3 mg / kg / day for 4 days )" ]
4004877	{'Patient’s report': 'The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and ...	[ "body weight had decreased ( 3,045 g )" ]	[]	[ "The girl patient was the first child of unrelated healthy Japanese parents. She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g. She was noticed to have hyperpigmentation and failure to thrive at 14 d, and was referred to o...	[]	[ "electrolytes were within normal ranges. Endocrinological examination showed a markedly high plasma adrenocorticotropin stimulating hormone ( ACTH ) level ( 3,341 pg / ml ). The serum 17 - hydroxyprogesterone level was normal. On ultrasonography, bilateral adrenal glands were slightly enlarged ( right 1.4 × 1.9 cm,...	[]	[ "normal female external genitalia with no ambiguity" ]	[ "normal female external genitalia with no ambiguity" ]	[]	[]	[]	[ "hyperpigmentation", "remarkable pigmentation" ]	[ "She was delivered at term after an unremarkable gestation through cesarean section because of breech presentation. Her birth weight was 3,184 g." ]	[]	[ "27 d of age" ]	[ "14 d ," ]	[ "She was diagnosed as having adrenal insufficiency caused by CLAH ." ]	[ "She was treated successfully with hydrocortisone and fludrocortisones" ]
4958706	{'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ...	[]	[]	[ "A 2 - year - old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 episodes...	[ "developmental delay", "no history of seizure", "spastic diplegia and brisk deep tendon reflexes in lower limbs. He was not able to stand or walk, independently and his speech was limited to 2–3 meaningful words. Acquisition of other developmental skills was mildly delayed with achieving head control and sittin...	[ "routine laboratory tests, and chromosomal study were also normal", "Magnetic resonance imaging ( MRI ) demonstrated high - intensity lesions in the deep white matter around the trigons of lateral ventricles (", "Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis c...	[]	[]	[]	[ "mild intermittent asthma, and 2 episodes of pneumonia" ]	[]	[ "Funduscopic examination was normal" ]	[ "ichthyosis", "had ichthyosis", "Extensive hyperkeratosis and scaling of the skin were seen particularly in the dorsum of hands, skin flexures, and lower abdomen", "Histopathology of the skin biopsy showed hyperkeratosis with keratotic plugging and parakeratosis consistent with ichthyosis" ]	[]	[]	[ "2 - year - old" ]	[ "at birth" ]	[ "the diagnosis of SLS was confirmed ." ]	[]
4681223	{'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o...	[ "Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia" ]	[]	[ "Case one was a 30 - year - old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handli...	[ "mental retardation" ]	[ "Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin", "Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia", "His serum immunoglobulin assa...	[]	[]	[]	[ "recurrent upper respiratory tract infections" ]	[ "severe growth retardation" ]	[]	[ "asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body", "initial lesions started in the chest and then spread to the entire body in 2 years", "no history of photosensitivity", "skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within n...	[]	[]	[ "30 - year - old", "22 - year - old", "9 - year - old", "21 - year - old" ]	[ "age of 1 - year ." ]	[ "a diagnosis of dyschromatosis universalis hereditaria ( DUH ) was made", "diagnosis of DUH was made in all the four cases .", "a diagnosis of dyschromatosis symmetrica hereditaria was made" ]	[]
4155964	{'Case 2': 'Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases an...	[]	[]	[ "Female patient, 55 years old, white, reported the onset of yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas. The lesions started during infancy and were asymptomatic. The patient did not present underlying diseases and denie...	[]	[ "The histological examination revealed calcification and fragmentation of elastic fibers in the middle and deep dermal layers", "echocardiogram were normal.", "The anatomopathological examination made evident calcified, distorted and fragmented elastic fibers in the dermis", "normal electrocardiogram and echo...	[ "Cardiovascular evaluation did not identify changes and the electrocardiogram and echocardiogram were normal", "arterial hypertension", "Cardiological evaluation did not show changes ( normal electrocardiogram and echocardiogram )" ]	[]	[]	[]	[]	[ "Right ophthalmoscopy, retinography and angiography revealed angioid streaks", "Right ophthalmoscopy identified the presence of angioid streaks, confirmed by retinography and angiography" ]	[ "yellowish papules, initially in the cervical region, with progression to the cubital and popliteal fossae, inguinal and periumbilical areas.", "grouped yellowish papules were visualized, forming plaques in all of the cervical region, cubital fossae, right popliteal fossa, bilateral and periumbilical inguinal reg...	[]	[]	[ "55 years old" ]	[ "The lesions started during infancy" ]	[ "pseudoxanthoma elasticum", "pseudoxanthoma elasticum" ]	[]
4027067	{'Case report': 'Phenotypic female twins (A, B) were born at 36+2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g (<10 percentile) in A and 2,040 g (10 to 25 percentile) in B, height was 43 cm (10 to 25 percentile) in A and 44 cm (10 t...	[ "Body weight was 8.8 kg ( 3 to 10 percentile ) in patient A, 9.4 kg ( 10 to 25 percentile ) in patient B, body length was 73.7 cm ( 3 to 10 percentile ) in patient A, 75.4 cm ( 10 to 25 percentile ) in patient B at 14 months of age." ]	[ "poor oral intake, vomiting, lethargy and dehydration" ]	[]	[ "normal development" ]	[ "slightly elevated potassium level and low level of sodium without severe adrenal insufficiency symptoms before discharge from neonatal intensive care unit ( NICU ). The tandem mass spectrometry screening for congenital metabolic disease were normal including 17 - OHP for congenital adrenal hyperplasia. The endocri...	[]	[ "slightly elevated potassium level and low level of sodium", "The endocrinologic investigations including serum ACTH and cortisol were performed in both patients because of hyperpigmentation, mild electrolyte abnormalities although both patients did not show the severe adrenal insufficiency symptoms. Laboratory f...	[]	[ "desaturation and tachypnea." ]	[]	[]	[ "hyperpigmentation", "skin hyperpigmentation" ]	[ "Phenotypic female twins ( A, B ) were born at 36 + 2 gestational week to unrelated parents. Apgar scores were 8 at 1 minute and 9 at 5 minutes in both patients. Birth weight was 1,920 g ( < 10 percentile ) in A and 2,040 g ( 10 to 25 percentile ) in B, height was 43 cm ( 10 to 25 percentile ) in A and 44 cm ( 10 t...	[]	[ "14 months of age ." ]	[]	[ "CLAH" ]	[ "Patient B started corticosteroid supplementation before manifestation of severe salt losing symptoms , except hyponatremia", "steroid supplementation ( fludrocortisones 0.2 mg daily in 2 divided doses , and hydrocortisone 12 mg daily in 3 divided doses ) at 14 months of age" ]
4942314	{'CASE REPORT': "A two-month-old female infant was transferred to Seoul National University Children's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg (<3rd percentile). Her Apgar scores w...	[ "Coagulopathy was also detected", "height was 42 cm ( < 3rd percentile ), her weight was 2.9 kg ( < 3rd percentile ), and her head circumference was 33.5 cm ( < 3rd percentile", "white blood cell count of 13,600/µL, a hemoglobin level of 10.1 g / dL and a thrombocyte count of 93,000/µL.", "The prothrombin tim...	[]	[ "A two - month - old female infant was transferred to Seoul National University Children 's Hospital with abdominal distension and hyperbilirubinemia. She was born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg ( < 3rd percentile ). Her Apgar scores were ...	[ "neurological development was delayed", "brain MRI and chromosomal study produced normal findings." ]	[ "aspartate aminotransferase ( AST ), 176 U / L; alanine aminotransferase ( ALT ), 106 U / L; total bilirubin, 1.76 mg / dL; and direct bilirubin, 1.2 mg / dL. Toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex virus and hepatitis B viral markers were examined under the suspicion of neonatal hepatitis...	[]	[ "hypoglycemia" ]	[]	[]	[]	[]	[ "whole - body jaundice" ]	[ "born at 36 weeks 2 days of gestation via a normal spontaneous vaginal delivery and had a birth weight of 1.27 kg ( < 3rd percentile ). Her Apgar scores were 6 at 1 minute and 9 at 5 minutes. Because she was small for her gestational age, she was admitted to the neonatal intensive care unit immediately after birth....	[]	[ "two - month - old" ]	[ "birth" ]	[]	[]
4672664	{'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm...	[]	[]	[ "We report a case of a 40 - year - old man with CAH/21 - hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinomabilateral orchiectomy", "surgical removal of his right adrenal gland" ]	[]	[ "Serum hormonal screening showed high 17 - OH progesterone and ACTH", "Serum tumor markers at 12.09.2013 : AFP 10.56 IU / mL ( AFP 4.03 IU / mL 01.2012 ), hGT beta and CEA â€“ not elevated, semen analyses : azoospermia.", "Gross findings : right testicle 2.5/2.5/2.5 cm, left â€“ 3.5/2/2 cm, with brown firm cut ...	[]	[]	[ "bilateral testicular masses", "semen analyses : azoospermia", "frozen sections were interpreted as malignant tumors. Gross findings : right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds ( 0.1–1.5 cm ). The microscopic examination showed complete...	[]	[]	[]	[]	[]	[]	[ "40 - year - old" ]	[]	[ "CAH/21 - hydroxylase deficiency", "TARTs", "CAH bilateral adrenal cortical hyperplasia of a diffuse and nodular type with multiple bilateral cortical nodules , pigmented nodules and congenital adrenal cytomegaly and bilateral TARTs revealing morphologically similar changes" ]	[ "Prednisolone" ]
4862294	{'Case Report': 'A 6-year-old male child, first born of third-degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive...	[]	[]	[ "A 6 - year - old male child, first born of third - degree consanguineous parents, presented with scaly lesions on skin over both upper and lower limbs since day 5 of life, global developmental delay and stiffness of all limbs. The child was delivered by cesarean section. He was admitted in neonatal intensive care ...	[ "global developmental delay and stiffness of all limbs", "recurrent episodes of generalized tonic clonic seizures since the age of 1½ years with a total of 8 episodes so far ( last episode at the age of 4 years ).", "global developmental delay. He is not able to stand till date. He is able to speak only monosyl...	[]	[]	[]	[]	[]	[ "Kyphoscoliosis of trunk was present" ]	[ "Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region" ]	[ "scaly lesions on skin over both upper and lower limbs since day 5 of life,", "diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented mac...	[ "delivered by cesarean section. He was admitted in neonatal intensive care unit for neonatal jaundice" ]	[]	[ "6 - year - old" ]	[ "day 5 of life" ]	[]	[]
4759899	{'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi...	[ "red colored urine for the past 1 year.", "hemoglobin, 9.8 g / dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase ( 423U / l ) and mild increase in serum bilirubin ( 1.8 mg / dL )",...	[ "no history of acute abdominal pain" ]	[ "A 27 - year - old male, presented to our clinic with a history of foreign body sensation in both eyes for the previous 2 years. He had a history of blistering skin lesions on the photo - exposed areas of the body for the past 12 years" ]	[]	[ "Hematological tests reported hemoglobin, 9.8 g / dL, platelets and white blood cell counts were normal. Peripheral blood smear showed normocytic red blood cells. Liver function test showed a moderate increase in lactic dehydrogenase ( 423U / l ) and mild increase in serum bilirubin ( 1.8 mg / dL )", "Ultrasonogr...	[]	[]	[ "red colored urine for the past 1 year" ]	[]	[ "severe pain in the fingers of both hands 1 - year prior presentation", "resorption of distal phalanges of all the fingers in both hands" ]	[ "foreign body sensation in both eyes for the previous 2 years", "The patient 's uncorrected visual acuity was 20/40 in both eyes. Best corrected visual acuity was 20/20 in both eyes with a correction of – 0.5 × 115 ° in the right eye and – 1.25 × 80 ° in the left eye. Air - puff tonometry measured intraocular pre...	[ "history of blistering skin lesions on the photo - exposed areas of the body for the past 12 years. At first, blisters started developing over the lower extremities and then gradually involved upper extremities and face. There was also a history of hyper - pigmentation and scarring of the photo - exposed areas of t...	[]	[]	[ "27 - year - old" ]	[]	[]	[ "The treatment involved complete avoidance of sunlight and use of dark goggles ." ]
4742476	{'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy...	[]	[]	[ "clitoral resection and vaginoplasty" ]	[]	[ "high testosterone level, raised 17 - hydroxyprogeterone level", "normal karyotype ( 46, XX )", "The first trimester screening conducted at the first visit of 12 + 3 week of gestation was normal and quad test conducted at 16 + 3 week of gestation was also normal.", "blood sugar was mildly increased than norma...	[]	[ "enlarged clitoris", "gestational diabetes mellitus", "gestational diabetes mellitus" ]	[ "enlarged clitoris" ]	[]	[]	[]	[]	[ "got pregnant spontaneously without any trial of assisted reproductive technology", "The first trimester screening conducted at the first visit of 12 + 3 week of gestation was normal and quad test conducted at 16 + 3 week of gestation was also normal", "She was diagnosed with gestational diabetes mellitus as bl...	[]	[ "27 - year - old" ]	[ "eleven years old" ]	[ "a diagnosed case of 21 - hydroxylase deficient simple virilizing form of classic CAH" ]	[ "dexamethasone ( minimum dose 0.5 mg / day to maximum dose 1.0 mg / day )", "changed to prednisolone and the endocrinology department had prescribed it ( minimum dose 10 mg / day to maximum dose 20 mg / day ) before pregnancy ." ]
4531688	{'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he...	[ "hemoglobin level of 13.1 g / dL; white blood cell count, 17,800 / mm 3; platelet count, 553,000 / mm 3" ]	[ "abdominal discomfort, diarrhea and weight loss", "cachectic and his abdomen slightly distended with shifting dullness", "diarrhea more than 10 times daily", "protracted diarrhea,", "marked improvement of the diarrhea", "abdominal pain" ]	[ "A 56 - year - old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital." ]	[ "general weakness,", "depressed and agitated", "mental change" ]	[ "Laboratory examination revealed a hemoglobin level of 13.1 g / dL; white blood cell count, 17,800 / mm 3; platelet count, 553,000 / mm 3; albumin, 2.6 g / dL; total bilirubin, 0.3 mg / dL; GOT, 48 IU / L; GPT, 22 IU / L; and alkaline phosphatase, 117 IU / L. His serum amylase was 856 IU / L and serum lipase 1,077 ...	[]	[]	[]	[]	[]	[]	[ "multiple skin lesions", "skin lesions were vesiculopustular and erythematous eruptions with scales on the face ( Figure 2A ) and perineal areas. During the following week, the lesions spread to involve the hands and feet", "typical skin lesions", "skin lesions began to alleviate", "By this time, his skin l...	[]	[]	[ "56 - year - old" ]	[]	[]	[ "we initiated therapy with zinc sulfate at 5 mg daily . Three to four days of zinc supplementation produced marked improvement of the diarrhea and , after one week of zinc supplementation , the skin lesions began to alleviate ." ]
4601419	{'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm...	[]	[]	[ "A one - and - half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There ...	[]	[ "Blood investigations, chest X - ray, urine examination showed no abnormality", "Histopathological examination was done which revealed mild hyperkeratosis" ]	[]	[]	[ "Left - sided cryptorchidism was present", "cryptorchidism" ]	[]	[]	[ "no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis", "Ophthalmological examination was done and no abnormality found" ]	[ "generalized scaling over whole body and redness over both cheeks.", "no history suggestive of collodion membrane. Scaling started from 3 weeks of age and had a history of exacerbation in the winter and improvement in summer", "fine white to brown scaling over the whole body without any spared area with glisten...	[ "prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm. There was no history suggestive of collodion membrane", "prolonged labor" ]	[]	[ "one - and - half year old" ]	[]	[]	[]
4040068	{'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel...	[ "65 kg weight, 160 cm height and 116/82 blood pressure" ]	[]	[ "born of a non - consanguineous marriage following a full term normal vaginal delivery." ]	[ "average intelligence and had no persistent aggressive, violent or criminal tendencies" ]	[ "Karyotyping showed 46XX pattern", "Ultrasound revealed normal female internal genitalia and adrenals. Magnetic resonance imaging brain and chest X - ray were normal", "Electrolytes, liver function test, lipid profile, thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing hormone,...	[]	[ "gain weight, developed hirsutism and never attained menarche", "External body habitus was of male and external genitalia was of female", "no apparent cushingoid features", "normal female internal genitalia and adrenals", "thyroid function test, insulin, prolactin, follicle stimulating hormone, luteinizing ...	[ "never attained menarche", "external genitalia was of female", "normal female internal genitalia" ]	[]	[]	[]	[ "Mother had to frequently remove patient 's facial hairs by hair removing cream" ]	[ "full term normal vaginal delivery" ]	[]	[ "21 - year old" ]	[ "early childhood" ]	[ "non - classical congenital adrenal hyperplasia ." ]	[]
4900341	{'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca...	[]	[ "weight loss,", "abdominal pain", "no symptoms such as abdominal pain" ]	[ "A 37 - year - old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous ( IV ) drug abuser that required a permanent indwelling venous catheter...	[ "no symptoms such as abdominal pain, dark urine, and neurologic deficit." ]	[ "chest computed tomography revealed multiple cavities in both lungs", "A large mobile veg on anterior leaflet of tricuspid valve commissure ( TVC ) with severe TR was also demonstrated in his transthoracic echocardiography" ]	[ "paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea" ]	[]	[ "no symptoms such as abdominal pain, dark urine" ]	[ "dyspnea", "cough", "paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea", "multiple cavities in both lungs" ]	[]	[]	[ "sweating" ]	[]	[]	[ "37 - year - old" ]	[]	[ "He was diagnosed as having AIP 5 years ago ." ]	[ "parenteral carbohydrate as dextrose 50 % to prevent AIP attack" ]
4691978	{'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther...	[ "height is 141 cm, weight 47 kg", "blood pressure ( BP ) was normal", "normal BP" ]	[]	[ "A 25 - year - old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up.", "She underwent clitoroplasty at 21 years of age" ]	[]	[ "Her karyotype was reported as 45, X{20}/46, XX{80 },", "17 - hydroxy progesterone ( 17 - OHP ) level was 1.3 ng / ml ( 0.2–1.4 ng / ml ), cortisol ( AM ) was 5–6 μg / dl ( 3.7–9.5 μg / dl ) dehydroepiandrosterone sulfate ( DHEAS ) was 189.6 μg / dl ( 65–380 μg / dl ) and serum total testosterone was 318 μg / dl ...	[]	[ "primary amenorrhea since 16 years of age.", "developed facial hair when she was 8 - year - old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris", "not being able to achieve menarche.", "17 - hydroxy progesterone ( 17 - OHP ) level wa...	[ "gradual enlargement of the clitoris.", "vagina and cervix were healthy, the clitoris was looking normal ( clitoroplasty done in past ) and urethra was mildly displaced posteriorly", "uterus measured 6 cm Ã— 3 cm Ã— 3 cm; both the ovaries were normal size with good antral follicular count", "hypoplastic uteru...	[]	[ "short stature" ]	[]	[ "developed facial hair when she was 8 - year - old. There was hair growth in the chest region", "hirsutism was evident. Her simplified Ferriman â€“ Gallwey score for hirsutism was 9 ( â‰¥3 )." ]	[]	[]	[ "25 - year - old" ]	[ "8 - year - old ." ]	[ "the diagnosis of NCAH was reached" ]	[ "She was started on low dose steroids to suppress the adrenal production of androgens ." ]
4719269	{'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan...	[ "144 cm in height" ]	[ "history of chronic intractable diarrhea" ]	[ "A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration", "he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co - operative but slow cerebrated with low intellig...	[ "He was coherent and co - operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements", "achieved complete improvement in his mental status" ]	[ "Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles", "Biopsy of the excised specimen revealed it to be a xanthoma characteriz...	[]	[]	[]	[]	[ "bilateral slow growing and painful swellings of his achilles tendons", "each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side", "significan...	[ "surgery for bilateral juvenile cataracts at the age of 8,", "peculiar yellow conjunctiva" ]	[]	[]	[]	[ "19 year old", "19 year" ]	[]	[ "Thus a diagnosis of cerebro - tendinous xanthomatosis was made", "cerebro - tendinous xanthomatosis", "cerebrotendinous xanthomatosis" ]	[ "medical therapy with chenodeoxycholic acid ( CDCA ) , a synthetic bile acid ." ]
4966423	{'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ...	[ "red colored urine since birth,", "height 133 cm ( < −3 standard deviations", "anemia an Hb of 8.3 g / dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis", "fluorescent red urine" ]	[ "protuberant abdomen with hepatosplenomegaly", "hepatomegaly, splenomegaly" ]	[ "A 13 - year - old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown - pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun - exposed areas, which healed with scar...	[ "mental developmental history were normal" ]	[ "Investigations revealed anemia an Hb of 8.3 g / dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood 's lamp. Porphobilinogen was not detected on Watson – Schwartz test in the urine", "Ultrasonography of abdomen conf...	[]	[]	[ "red colored urine since birth", "undescended testis on the left side", "undescended testes with hydrocele on the right side", "fluorescent red urine" ]	[]	[ "short statured" ]	[ "reddish brown - pigmented teeth", "Teeth showed brownish - red pigmentation, fluorescent under Wood 's lamp", "erythrodontia" ]	[ "excessive facial hair", "burning sensation and recurrent blistering over the sun - exposed areas, which healed with scarring and disfigurement of nails since 1 - year of age", "obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers,...	[ "birth and mental developmental history were normal" ]	[]	[ "13 - year - old" ]	[ "since 6 months of age" ]	[ "Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia , hypertrichosis , fluorescent red urine , absence of porphobilinogen in urine , and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP ." ]	[ "He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens ( HLA ) matched donor ." ]
4235503	{'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ...	[]	[ "suspected acute cholecystitis", "acute cholecystitis", "abdominal pain, nausea, and vomiting", "bout of severe abdominal pain ( diagnosed as cholecystitis )", "contracted gallbladder and stones" ]	[ "We present a case of a 26 - year - old female with suspected acute cholecystitis, mental status changes, and seizures" ]	[ "mental status changes, and seizures", "repeated seizures", "delirium, lower limb weakness, hyporeflexia, and psychological abnormalities", "unexplained behavioral disturbances and lower limb weakness", "cerebrospinal fluid ( CSF ) analysis findings were all within normal range" ]	[ "elevated urinary porphobilinogen, 5 - aminolevulinic acid, and total porphyrins", "DNA molecular testing showed a novel heterozygous mutation ( c. 760delC p. L254X ) in the exon11 of the HMBS gene", "sodium levels ranged between 118–125 mmol / L ( 135–144 mmol / L ), mildly elevated transaminases ( aspartate a...	[ "elevated and uncontrolled blood pressure, sinus tachycardia" ]	[]	[]	[]	[]	[]	[]	[ "abdominal pain, nausea, and vomiting during first pregnancy", "patient delivered a healthy child" ]	[]	[ "26 - year - old" ]	[]	[ "AIP" ]	[ "The patient was treated with intravenous heme arginate ( 4 mg / kg / day ) for 5 days , that was followed by an improvement in the chemical and clinical parameters" ]
4293843	{'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super...	[]	[]	[ "A 4 - year - old female patient with a nasal anomaly was admitted to our outpatient clinic" ]	[]	[ "low levels of androstenedione", "Paranasal sinus computed tomography study revealed that her left - sided accessory nostril opened to the left nasal cavity" ]	[ "patent foramen ovale" ]	[]	[ "cliteromegaly" ]	[]	[]	[ "left - sided supernumerary nostril", "Paranasal sinus computed tomography study revealed that her left - sided accessory nostril opened to the left nasal cavity" ]	[]	[ "She was born 2300 g prematurely on her 37 th gestational week from a 34 - year - old mother with a history of five pregnancies, two still births and two abortions" ]	[]	[ "4 - year - old" ]	[]	[ "congenital adrenal hyperplasia" ]	[]
4564473	{'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled...	[ "white blood cell ( WBC ) count was normal" ]	[]	[ "A 3 - year - old boy was admitted to our emergency department because of convulsions and unconsciousness" ]	[ "convulsions and unconsciousness", "coma and had seizures", "Electroencephalography showed focal epileptic activity", "T2 - weighted and fluid attenuated inversion recovery ( FLAIR ) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical - subcortical regions and ...	[ "Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg / dl and white blood cell ( WBC ) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies", "T2 - weighted and fluid attenuated i...	[]	[]	[]	[]	[]	[]	[]	[]	[]	[ "3 - year - old" ]	[ "birth" ]	[ "He had been diagnosed as 21 - hydroxylase deficiency at birth ." ]	[ "He had been taking oral steroid ( hydrocortisone ) replacement therapy since then ." ]
5730711	{'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal...	[]	[]	[ "A 36 years man presented with severe obstructive LUTS" ]	[]	[ "Prostate specific antigen ( PSA ) was 0.393 ng / mL", "X - ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma", "Biochemical analysis of urine showed the presence...	[]	[]	[ "severe obstructive LUTS", "prostate was hard and nodular", "Flow was a Q max of 2 mL / s for a voided volume of 130 mL and post void residual urine volume of 380 mL.", "Prostate specific antigen ( PSA ) was 0.393 ng / mL", "- ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fi...	[]	[ "chronic low back ache. He was short statured with kyphotic spine" ]	[ "Osler 's sign ( bluish discolouration of sclera ) was present", "Osler 's sign" ]	[]	[]	[]	[ "36 years" ]	[]	[ "These findings confirmed the diagnosis of alkaptonuria ." ]	[]
5903050	{'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou...	[ "short stature ( 145 cm" ]	[ "mild hepatomegaly", "mild hepatosplenomegaly" ]	[ "A 29 - year - old male patient presented with a 6 - year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk", "diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then" ]	[ "nerve conduction studies were normal" ]	[ "Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. His...	[]	[ "as Type 1 diabetic", "Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal", "fasting blood glucose level of 250 mg / dL and random blood sugar of 338 mg / dL with glycated hemoglobin 10.2 %", "serum testosterone, follicle stimulating ho...	[ "hypospadias, micropenis, scrotal swelling", "small penis, normal echotexture, no calcific plaques, and small left testis", "Marked thickening of the scrotum was seen" ]	[]	[ "short stature" ]	[ "voice was normal", "Ophthalmologic and auditory examinations were normal" ]	[ "asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking", "large ill - defined hyperpigmented indurated plaques extending symmetrically from mid - truncal area to both thighs characteristicall...	[]	[]	[ "A 29 - year - old" ]	[]	[ "H syndrome" ]	[]
5938503	{'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ...	[]	[ "chronic diarrhea, and intellectual disability, were not found" ]	[ "A 63 - year - old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A - C ) was referred to our hospital due to an abdominal pulsatile mass", "He had a history of hypertension for 5 years and a smoking habit ( 10 cigarettes / day", "He was born to consanguineous parents ( se...	[ "did not show any neuropathyintellectual disability, were not found" ]	[ "Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm", "Coronary angiography revealed mild to moderate coronary atherosclerotic lesions", "modestly elevated LDL cholesterol level ( 166 mg / dL )", "homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP...	[ "abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm", "history of hypertension for 5 years", "Coronary angiography revealed mild to moderate coronary atherosclerotic lesions", "AAA" ]	[]	[]	[]	[ "prominent Achilles tendon thickness" ]	[ "juvenile cataract, chronic diarrhea, and intellectual disability, were not found" ]	[ "plantar xanthomas" ]	[]	[]	[ "63 - year - old" ]	[]	[ "CTX" ]	[ "Atorvastatin" ]
5018076	{'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An...	[ "118 cm tall" ]	[]	[ "The case was a 65 - year - old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm", "previously undergone T7 â€“ T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24", "At the age of 34, she underwen...	[ "progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm", "cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level", "difficulty in walking", "gait disturbance due to thoracic myelopathy", "weakness of the upper ext...	[ "Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction", "Plain radiograph showed marked kyphosis of the thoracic ...	[]	[]	[]	[]	[ "difficulty walking, neck pain", "cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction", "difficulty in walking", "gait disturbance due to...	[]	[]	[]	[]	[ "65 - year - old" ]	[]	[ "VDRR", "diagnosed with VDDR" ]	[]
5894002	{'Case Report': 'We describe a case of a 9-year-old boy, with a diagnosis of CAH and precocious puberty, who was referred to our department for an ultrasound evaluation of the abdomen and scrotum. On ultrasound, there were well-defined, heterogeneous, predominantly hypoechoic, round-to-oval masses in both testes. Takin...	[]	[]	[ "A 9 - year - old boy, diagnosed with CAH at the age of 1 year following an adrenal crisis, was poorly controlled due to lack of compliance. He presented with precocious puberty, short stature, and aggressive behaviour" ]	[ "aggressive behaviour" ]	[ "On ultrasound, there were well - defined, heterogeneous, predominantly hypoechoic, round - to - oval masses in both testes", "The cortisol level was low, and levels of 17 alpha - hydroxyprogesterone, plasma corticotrophin ( ACTH ), and testosterone were high", "Scrotal ultrasound revealed well - defined, heter...	[]	[ "precocious puberty", "testicular adrenal rest tumor", "adrenal crisis", "precocious puberty, short stature", "The cortisol level was low, and levels of 17 alpha - hydroxyprogesterone, plasma corticotrophin ( ACTH ), and testosterone were high", "Abdominal ultrasound did not reveal any mass lesion in the ...	[]	[]	[ "short stature" ]	[]	[]	[]	[]	[ "9 - year - old", "A 9 - year - old" ]	[ "age of 1 year" ]	[ "diagnosis of CAH and precocious puberty", "Taking into account the presence of CAH and a typical sonographic appearance of bilateral testicular masses , a diagnosis of testicular adrenal rest tumor was made", "diagnosed with CAH at the age of 1 year following an adrenal crisis", "In a patient with CAH and bi...	[]
5554421	{'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su...	[ "Complete blood count and liver function tests were also normal", "the patient ’s SpO 2 remained between 97 % and 100", "heart rate varied from 82 to 96 beat / min", "Vital signs were stable during the surgery" ]	[]	[ "A 19 - year - old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents ( cousins ). Her older brother also suffered from PLS...	[]	[ "In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X - ray, and skull X - ray were normal", "Complete blood count and liver functi...	[]	[]	[]	[]	[]	[ "complete loss of teeth by the age of 14 which", "permanent and deciduous teeth were lost after erupting normally", "complete edentulous ridges with normal overlying mucosa", "total loss of her teeth" ]	[ "palmoplantar hyperkeratosis from the age of 4 years", "diffuse palmoplantar keratoderma", "palmoplantar hyperkeratosis" ]	[]	[]	[ "19 - year - old", "19 - year - old" ]	[ "age of 4 years" ]	[ "characteristic criteria for PLS" ]	[]
5478910	{'Case details': "A 14-year-old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his re...	[ "he weighed 38 kg and his height was 148 cm", "pulse rate was 47 / minute" ]	[ "recurrent episodes of vomiting", "liver was not enlarged" ]	[ "A 14 - year - old boy was referred to our unit with a clinical diagnosis of Kearns Sayre Syndrome. He had presented with progressive ptosis over a period of 18 months and decreased vision in dim light", "His parents reported that he was not a sporty person and became fatigued earlier than his peers during physic...	[ "no episodes of syncope, pre - syncope or night terrors", "His developmental history was normal", "Clinical evaluation of the neurological system was normal" ]	[ "Investigations had shown a mild elevation of lactates but tandem mass spectrometry was non - diagnostic", "His chest x - ray showed a normal cardiac silhouette with clear lung fields. Echocardiogram conformed a structurally normal heart. The left ventricular dimensions and systolic function were within normal li...	[ "low heart rate", "not associated with breathlessness or chest pain. There were no episodes of syncope, pre - syncope", "peripheral perfusion was good and all peripheral pulses were felt equally", "regular pulses and a normal volume", "no clinical evidence of cardiomegaly. His first heart sound was normal, ...	[]	[]	[ "not associated with breathlessness or chest pain", "His chest was clear on auscultation", "clear lung fields" ]	[]	[ "progressive ptosis over a period of 18 months and decreased vision in dim light. His ophthalmic evaluation had confirmed external ophthalmoplegia and a pigmentary degeneration of his retina", "Fundoscopic picture showing evidence of pigmentary degeneration of the peripheral retina" ]	[ "no dysmorphic features or congenital anomalies" ]	[]	[]	[ "14 - year - old" ]	[]	[ "Kearns Sayre Syndrome" ]	[ "As KSS is associated with progressive conduction system disease and his escape rhythm appeared to be of infra - Hisian rhythm he was implanted with a dual chamber transvenous pacing system ( St Jude 's Accent MRI system with 52 cm ( atrial ) and 58 cm ( ventricular ) St Jude Tendril MRI leads ) . The pacemaker was...
5544469	{'Case presentation': 'A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS: obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These sy...	[ "pulmonary embolism" ]	[]	[ "A known case of hypertension, asthma and AKU presented to Urology clinic complaining of severe LUTS : obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 ...	[]	[ "Supine KUB ( A ) showing numerous radiopaque stones at the projection of urinary bladder and prostate, note also advanced changes of alkaptonuria seen in spine, pre - operation non - contrast urinary tract CT ( B + C ) showing multiple stones in the urinary bladder and prostate", "Laboratory investigations revea...	[ "hypertension", "pulmonary embolism" ]	[]	[ "severe LUTS : obstructive symptoms including poor stream, straining, hesitancy, and incomplete emptying of urinary bladder, in addition to irritative symptoms including frequency, urgency and nocturia. These symptoms started 2 months prior to his current presentation with a history of passing stones during urinati...	[ "asthma", "pulmonary embolism" ]	[ "presence of thoracic lumbar back pain for the past 3 years with an incidental finding of advanced changes of AKU seen in the spine ( Fig. 1 A. KUB ), short stature", "advanced changes of alkaptonuria seen in spine" ]	[ "black discoloration of the nose and ear cartilages" ]	[]	[]	[]	[]	[]	[ "AKU", "alkaptonuria" ]	[]
5457889	{'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa...	[ "The blood pressure at clinic was 80/50 mm Hg", "104.5 cm tall and weighs 23.3 kg" ]	[ "vomiting", "vomiting" ]	[ "An 11 - month - old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full - term by Cesarean section and was the second child of the nonconsanguineous parents. The patient 's older sibling was phenotypi...	[]	[ "hyponatremia and an elevated adrenocorticotropic hormone ( ACTH ) level were detected by tests.", "the baby had a mildly elevated cholesterol level of 5.72 mmol / L ( normal : 2.85â€“5.70 mmol / L ), but a normal triglyceride level. Her plasma sodium level was 131.7 mmol / L ( normal : 135â€“145 mmol / L ) with ...	[ "Lacking hypertension" ]	[]	[ "female external genitalia", "plasma sodium level was 131.7 mmol / L ( normal : 135–145 mmol / L ) with potassium concentration of 6.61 mmol / L ( normal : 3.5–5.5 mmol / L )", "Neither ovaries nor uterus could be identified with pelvic ultrasound. However, testicular - like tissues were detected in the bilater...	[]	[]	[]	[ "skin hyperpigmentation", "skin hyperpigmentation" ]	[ "was born at full - term by Cesarean section" ]	[]	[ "11 - month - old", "11 - month - old" ]	[]	[ "She was suspected of having LCAH , and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT ( p. Lys236Thrfs∗47 ) on exon 6 of the STAR gene ." ]	[ "The patient was prescribed hydrocortisone 10 to 12 mg / m 2 and 9α - fludrocortisone 100 μg / d." ]
5633257	{'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The...	[ "normal vital signs" ]	[ "neuro - visceral and psychiatric manifestations", "right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only relieved after bowel motion", "mild pain distress", "acute abdominal pain", "abdominal pain", "four recurrent milder attacks in ...	[ "We present a 24 year - old woman who developed acute intermittent porphyria five days after right hemi - colectomy", "A 24 year - old- single female patient was admitted because of right lower abdominal pain and distension for 2 weeks. The pain was colicky, episodic, with no precipitating factors and only reliev...	[ "neuro - visceral and psychiatric manifestations", "sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light", "brain CT scan and magnetic resonance imaging ( MRI ), and cerebrospinal fluid analysis. These...	[ "positive urine test for porphobilinogen", "presence of a heterozygous mutation in the hydroxyrmethylbilane synthase ( HMBS ) gene ( c.760delC p Leu254 )", "Routine laboratory tests including CBC and renal and liver function tests were normal. Serum transaminases remained normal during her hospital stay. Aspart...	[]	[ ". Her menstrual cycle was regular and she was menstruating one day after admission." ]	[]	[]	[]	[]	[]	[]	[]	[ "a 24 year - old", "24 year - old-" ]	[]	[ "acute intermittent porphyria", "The diagnosis of AIP was based on the presence of high PBG in the urine ( test was done at another center ) ." ]	[ "high carbohydrate intake .", "regime of IV hematin ( heme arginate ) 4 mg / Kg body weight / day for three days .", "prophylactic IV hematin 4 mg / Kg body weight / day for three days" ]
5768970	{'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2...	[ "polycythemia ( hemoglobin : 18.0 g / dL; red blood count : 627 × 10 4; hematocrit : 53.1 %", "height : 165 cm; weight : 79 kg; Body Mass Index : 29.0 kg / m²", "polycythemia also improved to a Hb level of 15.2 g / dL.", "height : 1.58 m; weight : 65 kg; body mass index : 23.9 kg / m²" ]	[]	[ "A 41 year old man was followed at the local clinic for polycythemia ( hemoglobin : 18.0 g / dL; red blood count : 627 × 10 4; hematocrit : 53.1 % ) and hypertension", "A 41 year old man was referred to Kobe City Medical Center West Hospital, Kobe City, Japan, because of 2 years of infertility", "female offspri...	[]	[ "polycythemia ( hemoglobin : 18.0 g / dL; red blood count : 627 Ã— 10 4; hematocrit : 53.1 % )", "An abdominal CT scan for the examination of these conditions revealed the enlargement of the bilateral adrenal glands", "The laboratory tests revealed an extremely high level of ACTH ( 316.4 pg / mL ) and a relativ...	[ "hypertension" ]	[]	[ "Bilateral testicular tumors were identified in a scrotal ultrasound echo scan", "both testes had become slightly atrophied ( right : 14 mL; left : 12 mL ) ( performed with a Prader orchidmeter ) and no induration was palpated", "serum markers for testicular tumors were within the normal range and the testicula...	[]	[]	[]	[]	[]	[]	[ "41 year old" ]	[]	[ "Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility , accompanied by congenital adrenal hyperplasia ( CAH )" ]	[ "After 6 months of low‐dose , daily oral glucocorticoid therapy ( 0.5 mg / d ) , the serum FSH , LH , testosterone , and estradiol levels returned to normal levels ( 9.2 IU / mL , 1.8 IU / mL , 0.8 ng / mL , and < 10 pg / mL , respectively ) . The polycythemia also improved to a Hb level of 15.2 g / dL.", "a low‐...
5015608	{'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ...	[]	[]	[ "In 1989, a 21 - year - old male experienced visual loss after diving from a diving board", "Twenty years later, in April 2009, he presented again because of recent visual loss in the left eye" ]	[]	[ "Three biopsies from the flexural skin of the axilla and the neck did not reveal PXE related changes", "Analysis showed that our patient was homozygous for the R1141X - mutation in the ABCC6 - gene" ]	[]	[]	[]	[]	[]	[ "visual loss after diving from a diving board", "bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch ’s membrane were identified. The macula was not affected and vision returned to normal in both eyes", "recent visual loss in the left eye", "Visual acu...	[ "no typical plucked - chicken appearance, no papules, macules or other skin lesions. Three biopsies from the flexural skin of the axilla and the neck did not reveal PXE related changes" ]	[]	[]	[ "21 - year - old" ]	[]	[ "PXE" ]	[]
5839826	{'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b...	[ "height and weight were 86 cm and 12.5 kg, respectively ( both were below the 3rd percentile, according to China 's 1995 urban 0–18 year - old male height percentiles scale", "height and weight were still below the 3rd percentile, at 116 cm and 20.1 kg, respectively", "his height and weight reached 121 cm and 2...	[ "showed a preference for carbohydrate intake from infancy, with a clear aversion to animal proteins and was prone to vomiting", "short stature and excessive thinness" ]	[ "The patient was born at 36 +4 weeks ’ gestation with a birth weight of 2500 g. Three days after birth, he was hospitalized for several days due to transient hypoglycemia. His developmental milestones were unremarkable before 1 year of age. Following this, his developmental milestones became delayed, for example, t...	[ "developmental milestones became delayed", "began to walk at 1 year and 6 months and his walk was slower than normal and clumsy", "A neurologic examination focusing on the motor and sensory nervous system and cerebellar function produced unremarkable findings", "a single episode of generalized tonic seizure",...	[ "Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.", "Laboratory tests revealed retardation of bone age ( equivalent to a 1 year old ) and mildly elevated total bilirubin ( 29.4 Î¼mol / L, normal range : 2â€“24 Î¼mol / L ), direct bilirubin ( 10.4 Î¼mol / L...	[]	[ "retardation of bone age ( equivalent to a 1 year old )", "Blood glucose was slightly lower than normal ( 3.52 mmol / L, normal range : 3.9–6", "A growth hormone excitement test revealed low levels of growth hormone ( 0 minute : 0.76 ng / mL; 30 minutes : 4.5 ng / mL; 60 minutes : 6.3 ng / mL; 90 minutes : 4.1 ...	[]	[]	[ "muscle strength of the low extremities was grade 4 ( Oxford Scale )", "His creatine kinase ( 564.4 IU / L, normal range : 55–190 IU / L ) and blood ammonia levels ( 62.3 mmol / L, normal range : 9–30 mmol / L ) were slightly elevated" ]	[]	[]	[ "born at 36 +4 weeks ’ gestation with a birth weight of 2500 g. Three days after birth, he was hospitalized for several days due to transient hypoglycemia." ]	[]	[ "10 years old" ]	[ "1 year of age" ]	[ "argininemia with homozygous mutation ( c.32T > C ) of the ARG1 gene", "argininemia" ]	[ "Following the diagnosis , we recommended that the patient begins a low - protein diet ( 0.8 g / kg / day ) to decrease his blood arginine levels , as well as start taking citrulline ( 150–200 mg / kg / day ) ." ]
5698679	{'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon...	[ "The patient 's height and body weight were 85.0 cm and 11.6 kg, respectively. Her weight - for - height Z - score ( −0.3 ) was in the 15th–50th percentile of the World Health Organization ( WHO ) growth standards", "Her body weight continuously declined from 11.6 kg to 10.5 kg, and her weight - for - height Z - ...	[ "swallowing difficulty", "symptoms of aspiration while swallowing and prolonged feeding time", "irregularly ingested a soft and blended diet", "She had difficulty in eating and she showed signs of aspiration ( e.g., coughing, gagging )" ]	[ "A 22 - month - old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control" ]	[ "chief complaints of spasticity and swallowing difficulty as well as difficulty with head control.", "She was able to stand while holding on to something at 8 months of age, which suggested normal development. However, developmental arrest occurred at 13 months of age. Spasticity and genu recurvatum were observed...	[ "Brain magnetic resonance imaging scans obtained at 15 months of age did not show delayed myelination or abnormal enhancement", "The patient underwent hexosaminidase assay in white blood cells, which showed increased hexosaminidase A ( % ) and decreased total hexosaminidase. The total hexosaminidase A & B and hex...	[]	[]	[]	[ "symptoms of aspiration while swallowing", "signs of aspiration ( e.g., coughing, gagging )" ]	[ "genu recurvatum" ]	[ "the patient did not show cherry red spot on fundoscopy" ]	[]	[ "born at full term through normal vaginal delivery" ]	[]	[ "22 - month - old" ]	[]	[ "Sandhoff disease", "the patient was diagnosed with Sandhoff disease ." ]	[]
5021915	{'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days....	[ "vital signs on admission showed uncontrolled hypertension ( BP = 148/118 mm Hg ) and tachycardia ( HR = 120 bpm )." ]	[ "history of recurrent abdominal pain", "nausea, vomiting, worsening of abdominal pain, and constipation", "unable to eat", "abdominal pain persisted", "abdominal pain resolved in less than 24 h" ]	[ "This is a 20 - year - old female with a 6 - month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days" ]	[ "two generalized tonic – clonic seizures", "she continued to be lethargic, and a stat EEG was requested, that showed LPDs + F over the right temporoparietal region", "She became profoundly lethargic and assumed a fetal position in bed. On neurological examination, there were left lower extremity clonus and a le...	[ "Head CT was normal, cerebral spinal fluid ( CSF ) was unremarkable, and comprehensive CSF profiles were negative, including PCR for Herpes Simplex virus, Varicella Zoster virus, Lyme disease, and Cryptococcus. The brain MRI showed PRES", "Urine, then serum and fecal porphyrins were requested. The results were as...	[]	[]	[ "acute pyelonephritis," ]	[]	[]	[]	[]	[]	[]	[ "a 20 - year - old" ]	[]	[ "AIP" ]	[ "AIP", "The patient 's abdominal pain resolved in less than 24 h with carbohydrate ( glucose ) loading and highly caloric diet . Therefore , intravenous hemin was not necessary at that time ." ]
5838761	{'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same....	[ "short stature for his age ( 131 vs. 154 cm )", "haemoglobin to be 6.7 g / dl." ]	[ "mild hepatomegaly" ]	[ "A 13 - year - old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same. There w...	[]	[ "Routine laboratory investigations revealed haemoglobin to be 6.7 g / dl. Liver function tests, thyroid profile, serum cortisol ( 15.25 μg / dL ), and blood sugar were normal. Chest X - ray was normal. Antinuclear antibody was negative. Growth hormone level was reduced to 0.77 ng / ml ( normal range 1–14.4 ng / ml ...	[]	[]	[]	[]	[ "short stature", "Hallux valgus was also present" ]	[ "hearing loss for more than 5 years which was progressive" ]	[ "hyperpigmentation and hypertrichosis of lower extremities and trunk", "well defined, bilaterally symmetrical hyperpigmented, indurated plaques with marked hypertrichosis were present over medial aspect of thighs and legs. Knees and feet were spared. Similar lesions were present over sacral area and lower back bi...	[]	[]	[ "13 - year - old" ]	[]	[ "The final diagnosis of H syndrome was made based on the characteristic clinical and histopathological findings" ]	[]
6352754	{'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1...	[ "His respiratory rate was 50 breaths/ min and was saturating at 99 % in air. His preductal oxygen saturation was 98 % in air and postductal oxygen saturation was 97 % in air" ]	[ "poor feeding", "Examinations of the respiratory system and abdomen were within normal limits" ]	[ "A 10 - day - old male infant presented to the emergency department with a 3 - day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks ’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, resp...	[ "poor feeding and lethargy", "No fever or irritability", "crying, alert" ]	[ "His initial blood gas showed the following : pH 7.30 ( 7.35–7.45 ), HCO 3 16.1 mmol / L ( 22–28 mmol / L ), BE −9.0 mmol / L ( −4.0 to +4.0 mmol / L ), Na 112 mmol / L ( 135–145 mmol / L ), K 9.7 mmol / L ( 3.5–5.0 mmol / L ), ionised Ca 1.16 mmol / L ( 1.0–1.3 mmol / L ), glucose 3.9 mmol / L ( 3.0–6.5 mmol / L )...	[ "bradycardic", "sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle", "His preductal oxygen saturation was 98 % in air and postductal oxygen saturation was 97 % in air", "he had a 2/6 systolic murmur best heard in the pulmonary area", "His ECG showed broad complex bradycardia", "r...	[]	[ "hyponatraemia and hyperkalaemia", "genitalia was examined and was noted to have normal male genitalia. The pigmentation of the genitalia was noted to be darker than the infant ’s skin tone" ]	[ "His chest was clear", "Examinations of the respiratory system and abdomen were within normal limits" ]	[]	[]	[]	[ "He was born at 40 weeks ’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 10 min, respectively. His birth weight was 2.80 kg ( 2nd–9th centile ); length 49.0 cm ( 25th centile ) and head circumference 36.0 cm ( 9th–25th centile ). His antenat...	[]	[ "10 - day - old" ]	[]	[ "A diagnosis of CAH secondary to 21 - hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies ." ]	[ "hydrocortisone intravenously ( 4 mg / kg ) and fludrocortisone acetate ( 50 mcg ) .", ". He was discharged home with oral hydrocortisone ( 2 mg / kg 6 hourly ) , fludrocortisone acetate ( 50 mcg once daily ) and 0.9 % sodium chloride ( 1 mmol / kg twice daily ) ." ]
6849992	{'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of...	[ "bilateral thrombosis of the stented SFAs", "acute superficial femoral artery ( SFA ) thrombosis" ]	[]	[ "Patient 1 ( a woman, 68 years old ) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle - brachial pressure index ( ABI ) at rest of 0.69 on the right and 0.85 on the left", "Patient 2 ( a woman, 65 years old ) was diagnosed with PXE at 20 year...	[]	[ "Duplex scan disclosed bilateral calcified short stenosis ( > 70 % ) of the superficial femoral arteries ( SFAs )", "duplex scanning disclosed bilateral thrombosis of the stented SFAs", "Intraoperative angiography demonstrating stenosis of the left superficial femoral artery ( SFA )", "Duplex scans disclosed ...	[ "long history of lower limb claudication with an ankle - brachial pressure index ( ABI ) at rest of 0.69 on the right and 0.85 on the left.", "Duplex scan disclosed bilateral calcified short stenosis ( > 70 % ) of the superficial femoral arteries ( SFAs )", "intermittent claudication recurred", "stenosis of t...	[]	[]	[]	[]	[]	[]	[]	[]	[ "65 years old" ]	[]	[ "diagnosed with PXE at 18 years of age .", "diagnosed with PXE at 20 years of age", "was diagnosed with PXE at 8 years of age .", "diagnosed with PXE at 41 years of age ." ]	[ ", 68 years old" ]
6857253	{'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ...	[]	[]	[ "A 32 - year - old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back." ]	[ "mentally retarded", "gait instability", "ataxia", "hyperintensity of bilateral dentate nuclei, deep cerebellar white matter with hyperintensity of posterior limbs of internal capsules on T2W and FLAIR images with corresponding hypointensity on T1W images. Susceptibility weighted images revealed comma shaped ...	[ "Lipid profile revealed total cholesterol of 306 mg / dl ( LDL 205 mg / dl, VLDL 46mg / dl, HDL 55 mg / dl ) and triglycerides of 526 mg / dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of...	[]	[]	[]	[]	[ "fusiform enlargement of bilateral Achilles tendons with signal intensity similar to muscle with speckled appearance on axial images" ]	[ "cataracts in both eyes" ]	[ "right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints", "soft, non - tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence", "tissue swellings along the posterior aspect of both ankle joints and calcaneal bones", "Hyopint...	[]	[]	[ "32 - year - old" ]	[]	[ "With a combined spectrum of clinical , biochemical and radiological findings , a diagnosis of cerebrotendinous xanthomatosis(CTX ) was made . '" ]	[]
6862365	{'Case 5': 'A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter...	[]	[ "inflammatory bowel syndrome" ]	[ "A 62 - year - old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5 - year history of an asymptomatic eruption on the neck", "no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eru...	[]	[ "Echocardiography was unremarkable", "A skin punch biopsy was performed, and the hematoxylin and eosin ( H and E ) sections revealed a normal - appearing epidermis. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticul...	[ "Echocardiography was unremarkable", "hypertension", "hypertension" ]	[ "diabetes mellitus Type 2," ]	[]	[ "chronic obstructive pulmonary disease", "asthma" ]	[ "osteoarthritis", "rheumatoid arthritis" ]	[ "The ophthalmologic examination was normal", "The eye examination was normal" ]	[ "asymptomatic eruption on the neck.", "numerous soft, oval - to - round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area", "A skin punch biopsy was performed, and the hematoxylin and eosin ( H and E ) sections revealed a normal - appearing epidermis. The der...	[]	[]	[ "62 - year - old", "68 - year - old", "61 - year - old", "77 - year - old", "71 - year - old" ]	[]	[]	[]
6536078	{'Case History': 'A 12-year-old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with sw...	[ "microcytic anemia with hemoglobin levels of 10.1 g / dl, and a platelet count of 5.14 lakhs / cu.mm" ]	[ "hepatomegaly", "hepatomegaly" ]	[ "A 12 - year - old girl, first born of second degree consanguineous marriage presented with a history of hyperpigmentation over the thighs from birth. History of skin thickening over the buttocks, thighs, and legs was present for past 3 months. There was also a history of recurrent fever associated with swelling of...	[ "her other developmental milestones were normal", "bilateral sensorineural hearing loss" ]	[ "ESR - 75, CRP - 81, microcytic anemia with hemoglobin levels of 10.1 g / dl, and a platelet count of 5.14 lakhs / cu.mm. Serum protein electrophoresis showed increased gamma fraction of 29.8 suggestive of polyclonal gammopathy. Investigations for the cause of fever revealed no positive findings. Thyroid profile, f...	[ "swelling of legs" ]	[ "Thyroid profile, fasting, and post - prandial blood sugar levels were normal" ]	[ "menarche at 11 years of age and has had regular menstrual cycles", "normal genitalia" ]	[]	[ "low height for age", "Skeletal examination was normal" ]	[ "bilateral hearing loss was present since 5 years of age", "proptosis,", "Auditory evaluation revealed bilateral sensorineural hearing loss" ]	[ "hyperpigmentation over the thighs", "skin thickening over the buttocks, thighs, and legs", "proptosis, webbing of neck", "well - defined, bilaterally symmetrical hyperpigmented, indurated plaques with hypertrichosis were present over medial and lateral aspect of thighs and legs sparing knees and feet. Simila...	[]	[ "webbing of neck" ]	[ "12 - year - old" ]	[ "birth" ]	[ "we made the diagnosis of H syndrome" ]	[]
6786212	{'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre...	[]	[]	[ "A 52 - year - old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication ( Timolol 2 / day ) was referred to our service to assess the performance of a keratoplasty" ]	[ "epilepsy" ]	[ "double homozygous for CEP" ]	[ "hypertension" ]	[]	[]	[]	[]	[ "glaucoma", "central corneal conjunctivalization of the right eye ( OD ) and the onset of inferior conjunctivalization of the left eye ( OS ). She complained of foreign body sensation, burning, and dryness, accompanied by progressive visual acuity loss in both eyes ( OU", "visual acuity of 0.16 OD and 0.4 OS. I...	[ "intense dermatological lesions on the face and extremities" ]	[]	[]	[ "52 - year - old" ]	[]	[ "CEP" ]	[]
6074433	{'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa...	[ "height was 133 centimeters. Her blood pressure was 140/88", "His height was in the fifth centile. His blood pressure was 130/80 mm Hg", "His final height was 139 centimeters" ]	[]	[ "was referred to our pediatric endocrinology clinic at the age of 16 years when she started to have irregular menstruation.", "Feminizing genitoplasty ( clitoral reccesion ) was performed at the age of 16 years", "Hysterectomy, oophorectomy and a bilateral testicular prosthesis implantation were performed" ]	[]	[ "normal female karyotype and normal electrolytes. An adrenocorticotropic hormone ( ACTH ) stimulation test showed a baseline cortisol ( F ) level of 28 nmol / L, ACTH of 201 ng / mL ( normal, 0–46 ), 11 - deoxycorticosterone ( 11 - DOC ) of 20 nmol / L ( normal, 0.49–3.3 ), 17 - hydroxyprogesterone ( 17 - OHP ) of ...	[ "Her blood pressure was 140/88.", "His blood pressure was 130/80 mm Hg." ]	[ "severe virilized external genitalia : a phallic - like structure with hypospadias and incompletely fused labioscrotal folds", "started to have irregular menstruation", "short male - looking", "Tanner stage IV breast development", "An adrenocorticotropic hormone ( ACTH ) stimulation test showed a baseline c...	[ "severe virilized external genitalia : a phallic - like structure with hypospadias and incompletely fused labioscrotal folds", "Genital examination showed a phallus 7 centimeters in stretched length, a single perineal orifice and incompletely fused labioscrotal folds. No gonads were palpable", "normal uterus an...	[]	[ "closed epiphyses on a bone age X - ray", "bone age of 16 years" ]	[]	[ "acne", "acne" ]	[ "She was a product of a full - term spontaneous vaginal delivery at home", "He was born at home" ]	[]	[ "20 years old" ]	[]	[ "she was diagnosed as having 11 - hydroxylase deficiency", "He was diagnosed as having 11 - hydroxylase deficiency" ]	[ "was started on hydrocortisone 10 mg twice a day", "started on hydrocortisone 10 mg twice a day ." ]
6453830	{'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper...	[ "Vital signs Pulse rate, 83 beats per minute; blood pressure, 100/70 mmHg; respiratory rate, 13 breaths per minute; and temperature, 37 Â° C Anthropometric parameters Weight, 47.1 kg; height, 160 cm; MUAC, 19.3; BMI, 18.4; height / age, -1.7 SD; BMI / age, -0.9 SD" ]	[ "Mild hepatosplenomegaly", "mild hepatosplenomegaly" ]	[ "A 16 - year - old Iraqi boy, born of first - cousin parents, presented to our outpatient clinic at Al - Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertric...	[ "speaking difficulties", "speaking difficulties", "delayed walking until the age of 2 years", "brain magnetic resonance imaging was normal" ]	[ "elevated erythrocyte sedimentation rate of 93 ( normal range, 0–15 mm / h ), elevated serum cortisol of 1030 nmol / L ( normal range at morning, 171 - 536 nmol / L ), and decreased serum testosterone level of 2.63 ng / mL ( normal range, 2.8 - 8 ng / mL ). Complete blood count showed mild microcytic anemia. Thyroi...	[ "nonpitting edema of the ankles" ]	[ "gynecomastia", "pubic hair presents in normal distribution", "elevated serum cortisol of 1030 nmol / L ( normal range at morning, 171 - 536 nmol / L ), and decreased serum testosterone level of 2.63 ng / mL ( normal range, 2.8 - 8 ng / mL )" ]	[ "hypospadias", "hypospadias", "Hypospadias; pubic hair presents in normal distribution; scrotal examination is normal" ]	[]	[ "finger and toe deformities ( hallux valgus )", "Bilateral hallux valgus deformity, with fixed flexion contractures, in the interphalangeal joints of the toes and the little fingers", "Hallux valgus deformity, with flexion contractures of the toes and little fingers" ]	[ "hearing loss, speaking difficulties", "corneal arcus", "hearing loss and speaking difficulties", "ears are of abnormal shape and size. Eyes Bilateral corneal arcus; moderate exophthalmos; asymmetrical corneal light reflex. Ophthalmoscopic examination showed bilateral swelling of the optic disc. Visual acuity...	[ "hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing", "premature graying of the hair", "Large hyperpigment...	[]	[ "Lymph nodes Severely enlarged inguinal lymph nodes, with tenderness on palpation" ]	[ "16 - year - old" ]	[ "These features started at age 10 , except for the hypospadias , which was present since birth , and the hearing loss and speaking difficulties , which were diagnosed in early childhood" ]	[]	[]
6133578	{'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu...	[ "her blood pressure was 136/101 mm Hg, and her heart rate was 109 / min", "moderately increased blood pressure ( 159/101 mm Hg ) and tachycardia ( 112 / min )" ]	[ "ileus", "abdominal pain as well as constipation", "recurrent abdominal pain", "her abdominal pain regressed", "Unexplained abdominal pain", "abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week", "acute pancreatitis", "paroxysmal pain was not relieved", "r...	[ "An 18 - year - old girl was admitted to our hospital following development of generalized tonic - clonic seizure in November 2016.", "In December 2014, a 27 - year - old man was admitted to our hospital for abdominal and lumbar pain lasting for 12 days after heavy food and alcohol intake before 1 week." ]	[ "generalized tonic - clonic seizure", "brain MRI was performed in her local hospital indicating PRES", "seizures", "seizures", "no focal neurological deficit", "hallucination", "The cerebral spinal fluid ( CSF ) analysis was normal", "Brain MRI performed in our hospital 6 days later revealed partial r...	[ "and a series of tests including abdominal X - ray, CT scan, and ultrasound were normal", "Except for remarkable hyponatremia of 104 mmol / L, her serum potassium was 3.0 mmol / L, aspartate transaminase 243 U / L, alanine transaminase 142 U / L, and total bilirubin 37 Î¼mol / L. Tests for antinuclear and anticar...	[ "blood pressure increased", "moderately increased blood pressure ( 159/101 mm Hg ) and tachycardia ( 112 / min )" ]	[]	[]	[]	[ "lumbar pain", "lumbar pain" ]	[ "no complaint of visual disturbance" ]	[]	[]	[]	[ "18 - year - old", "27 - year - old" ]	[]	[ "AIP was confirmed", "AIP", "The diagnosis of AIP" ]	[ "The patient was given a high carbohydrate diet and intravenous dextrose . No hematin was available for her", "Hematin", "Glucose infusion and a high carbohydrate diet were given to the patient , as hematin was not available" ]
6189373	{'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du...	[]	[]	[ "A 20 - year - old male presented with a gradually increasing swelling of the left testis for 1 year duration" ]	[]	[ "Ultrasonography showed bilateral enlargement of the testes and epididymes ( right testis measuring 41 ml in volume ( 6.6 cm × 3.7 cm × 2.3 cm ), left testis measuring 52.1 ml in volume ( 6.2 cm × 4.5 cm × 3.6 cm ) ). In addition, there were bilateral grade - II varicocele. Seminal fluid analysis showed azoospermia...	[]	[]	[ "gradually increasing swelling of the left testis", "large hard indurated swelling of both epididymes more prominent on the left side. Left testis was ill - defined with an approximate diameter of 3.5 cm", "Ultrasonography showed bilateral enlargement of the testes and epididymes ( right testis measuring 41 ml ...	[]	[]	[]	[]	[]	[]	[ "20 - year - old" ]	[ "age of 1 year" ]	[ "He was diagnosed to have CAH at the age of 1 year" ]	[ "A course of prednisolone was started and there was good response ." ]

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