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 |
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6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | [
"standing height of 153.4 cm ( z score : −3.1 )"
] | [] | [
"A 28 - year - old man with classic salt - wasting CAH due to 21 - hydroxylase deficiency presented with subfertility. He had known bilateral TARTs"
] | [
"insomnia"
] | [
"A recent testicular ultrasound showed increased TART volume, now occupying 16 % of his total testicular volume ( 5.01 mL of 32.30 mL testicular volume ), and semen analysis showed azoospermia.",
"Biochemical evaluation at 0800 before medication showed 17 - hydroxyprogesterone 13,060 ng / dL ( reference : 13 to 1... | [] | [
"subfertility",
"bilateral TARTs, first noted at age 18 and occupying 1.2 % of his total testicular volume ( 0.38 mL of 30.68 mL )",
"A recent testicular ultrasound showed increased TART volume, now occupying 16 % of his total testicular volume ( 5.01 mL of 32.30 mL testicular volume ),",
"short - statured",
... | [
"subfertility",
"bilateral TARTs, first noted at age 18 and occupying 1.2 % of his total testicular volume ( 0.38 mL of 30.68 mL )",
"A recent testicular ultrasound showed increased TART volume, now occupying 16 % of his total testicular volume ( 5.01 mL of 32.30 mL testicular volume ), and semen analysis showe... | [] | [
"On examination, the patient was short - statured, with a standing height of 153.4 cm ( z score : −3.1 ); midparental height was 174.1 cm ( z score : −0.4 )."
] | [] | [
"supraclavicular fullness with predominantly central weight gain and the presence of abdominal striae"
] | [] | [] | [
"28 - year - old"
] | [] | [
"with classic salt - wasting CAH due to 21 - hydroxylase deficiency"
] | [
"He had been receiving prednisone 5 mg each morning and fludrocortisone 50 μg twice daily over the last decade",
"His glucocorticoid therapy was switched from prednisone 5 mg daily to dexamethasone 250 μg at bedtime to suppress the nocturnal ACTH surge ."
] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | [
"143 cm/49 kg, body surface area 1.37 m 2",
"her initial systolic blood pressure and heart rate were 131 mmHg and 68 beats per minute, respectively. Her blood pressures were almost equal in the upper and lower extremities",
"Her initial hemoglobin level was 11.8 g / dL"
] | [] | [
"A 32 - year - old woman with Turner syndrome ( 143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden - onset back pain"
] | [] | [
"Her initial hemoglobin level was 11.8 g / dL",
"An initial computed tomography ( CT ) scan revealed intimal dissection on aortic isthmus level and a dissected flap extending from the left subclavian artery to the descending aorta. An elongated transverse aortic arch ( ETA ) and an aberrant right subclavian arter... | [
"sudden - onset back pain",
"electrocardiography revealed a normal sinus rhythm"
] | [] | [] | [] | [
"short stature"
] | [] | [] | [] | [] | [
"32 - year - old"
] | [] | [
"Turner syndrome"
] | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | [] | [
"vomiting"
] | [
"This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles",
"Our patient is a 13 - year - old boy who was the second child born to non - consanguineous parents. He noticed tiredness and pain in muscles on walking. Patient had about 6 episodes of weakness of all f... | [
"encephalopathy, fatigue, muscle weakness",
"All reflexes were preserved and sensations were normal"
] | [
"ketonuria",
"His tandem mass spectroscopy showed elevated medium - chain acylcarnitine and long - chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol",
"Investigations showed severe ketonuria ( creatine kinase, 1271 IU / L, lactate dehydrogenase, 2622 IU / ... | [] | [
"thin built child with a small goiter"
] | [
"brown colored urine after exertion"
] | [] | [
"muscle weakness",
"lipid storage in muscles",
"tiredness and pain in muscles on walking",
"6 episodes of weakness of all four limbs presenting as difficulty in getting up from sitting posture and falls while walking",
"brown colored urine after exertion",
"Wasting of supraspinatus, infraspinatus, deltoid... | [] | [] | [] | [] | [
"13 - year - old"
] | [] | [] | [
". The patient was started on high carbohydrate diet with restriction on protein , fat and started on riboflavin ( 200 mg ) and carnitine ( 1.5 g ) per day ."
] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | [
"HR of twin 1 exhibited a compensatory increase to a maximum of 110 beats / min",
"HR increased by 45 to 120 beats / min",
"twin 2 exhibited a diastolic blood pressure ( DBP ) that exceeded the threshold for sex and height and had DBP readings 20 % higher than those of twin 1",
"Wt. ( kg ) 43.6 46.0 Ht. ( cm ... | [] | [
"Monozygotic female adolescent twins, aged 16 years old, were originally diagnosed in infancy with NC and found to have a 57 - kb deletion of the CTNS gene, the most frequent cause of NC in Western populations.",
"Both twins were transplanted 6 years previously with kidneys from a single deceased donor source. Si... | [] | [
"Measured GFR ( ml / min per 1.73 m 2 ) 59.3 70.0",
"Tacrolimus level ( ng / ml ) 5.5 4.5",
"Creatinine, blood urea nitrogen, and cystatin C levels were consistent with the CKD stage of each twin. Both patients also had blood drawn for measurement of their leukocyte cystine levels, which were obtained at the ti... | [
"HR of twin 1 exhibited a compensatory increase to a maximum of 110 beats / min at 6.9 minutes into the HUT and remained at this level until she was returned to a horizontal and/or supine position. This was a change of 52 beats / min. In Figure 1 b, a systolic BP ( SBP ) decline of 29.8 mm Hg can be seen at 0.3 min... | [] | [] | [] | [] | [
"cystine crystal accumulation in the lens and cornea",
"photophobia secondary to corneal cystine crystal deposition"
] | [] | [] | [] | [
"16 years old"
] | [
"infancy"
] | [
"diagnosed in infancy with NC and found to have a 57 - kb deletion of the CTNS gene , the most frequent cause of NC in Western populations ."
] | [
"They were on cysteamine bitartrate ( cystagon - immediate release ) since diagnosis . Each was currently prescribed Procysbi ( cysteamine - delayed release ) 675 mg every 12 hours . In addition , each twin was prescribed cysteamine hydrochloride ( 0.44 % ) eye drops due to cystine crystal accumulation in the lens ... |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | [
"coagulopathy",
"Ferritin level was elevated at 8,397 umol / L.",
"normal ammonia level and clotting profile all along",
"Ferritin level was high at 9,801 umol / L."
] | [] | [
"The baby presented with recurrent hypoglycemia shortly after birth"
] | [] | [
"Blood tests on the second day of life showed cholestasis ( up to 145 umol / L ), hypoalbuminemia, hyperammonemia ( up to 453 umol / L ), and coagulopathy, which progressively worsened throughout the first week of life. Work - up for neonatal liver failure was negative for metabolic disease, and surgical and infect... | [] | [
"recurrent hypoglycemia"
] | [] | [] | [] | [] | [] | [
"A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg ( small for gestational age ).",
"the other twin girl was born with a birth weight of 2.4 kg"
] | [] | [
"shortly after birth"
] | [
"shortly after birth"
] | [
"confirmed the diagnosis of neonatal hemochromatosis ( NH ; likely due to gestational alloimmune liver disease , GALD ) ."
] | [
"Medical treatment was given with exchange transfusion and intravenous immunoglobulin ( IVIg )"
] |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | [
"Her height was 154 cm, weight 48 kg"
] | [
"hepatomegaly",
"marked hepatomegaly",
"hepatic dysfunction",
"abdominal pains"
] | [
"apparent reduction of the subcutaneous adipose tissue at 1 mo of age",
"Poor weight gain was seen during a health checkup at 3 mo of age"
] | [
"An intelligence test ( WISC - IV ) at 12 yr of age demonstrated that his full - scale intelligence quotient was 58, indicating slightly retarded mental development with mild intellectual disability",
"insomnia, headaches",
"her psychological state that is in line with her school year",
"headaches and insomni... | [
"Laboratory examination demonstrated extremely high triglyceride level and low leptin level ( Table 1 ). Compound heterozygous variants of BSCL2 gene were identified; these were identical to the gene variants found in his sister",
"Serum triglyceride and insulin levels increased to more than 2000 mg / dL and 700 ... | [
"Cardiac ultrasonography demonstrated hypertrophic cardiomyopathy"
] | [
"extremely high triglyceride level and low leptin level",
"Serum triglyceride and insulin levels increased to more than 2000 mg / dL and 700 μU / mL, respectively, at 2 mo of age",
"hyperlipidemia and hyperinsulinemia resolved",
"His insulin resistance worsened and his triglyceride level increased during pub... | [
"irregular menstruation"
] | [
"obstructive sleep apnea"
] | [] | [] | [
"apparent reduction of the subcutaneous adipose tissue",
"inverted triangular face, sparse subcutaneous tissue",
"generalized reduction in the subcutaneous adipose tissue"
] | [
"born at 36 wk of gestational age",
"born to non - consanguineous Japanese parents at 38 wk of gestational age"
] | [] | [
"16 yr and 4 mo of age"
] | [
"1 mo of age .",
"3 mo of age"
] | [
"CGL",
"She was therefore diagnosed with CGL ( Berardinelli - Seip syndrome ) ."
] | [
"At 11 yr and 6 mo of age , metreleptin was introduced at a dose of 0.04 mg / kg / d , and there was an immediate improvement of hyperinsulinemia and hyperlipidemia",
"At 11 yr and 5 mo of age , she was enrolled in a clinical trial of metreleptin . Metreleptin treatment was initiated at a dose of 0.06 mg / kg / d... |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | [
"( height=107 cm, z -score=-0.4, 32nd percentile; weight=20.8 kg, z -score=+0.8, 80th percentile; body mass index=18.2 kg / m 2 )",
"height=170 cm, z -score=-0.8, 21st percentile; weight=110 kg, z -score=+2.4, 99th percentile; BMI=38.1 kg / m 2",
"height=94 cm, z -score=-0.05, 48th percentile; weight=14 kg, z -... | [] | [
"The proband was a male born to consanguineous parents ( Fig. 1 ). He had an acute viral fever at 4 years of age, and was found to have mild hyponatremia and hyperkalemia ( sodium 131 mEq / L and potassium 6.1 mEq / L, respectively )",
"no history of prostration with illness, and normally - timed pubertal changes... | [] | [
"mild hyponatremia and hyperkalemia ( sodium 131 mEq / L and potassium 6.1 mEq / L, respectively ). Further investigation revealed increased 17 - hydroxyprogesterone ( 17 - OHP ) and adrenocorticotropic hormone ( ACTH ) levels ( Table 1 ), and a suboptimal rise in cortisol levels following ACTH1 - 24 stimulation ( ... | [] | [
"mild hyponatremia and hyperkalemia ( sodium 131 mEq / L and potassium 6.1 mEq / L, respectively ). Further investigation revealed increased 17 - hydroxyprogesterone ( 17 - OHP ) and adrenocorticotropic hormone ( ACTH ) levels ( Table 1 ), and a suboptimal rise in cortisol levels following ACTH1 - 24 stimulation ( ... | [
"mild hyponatremia and hyperkalemia ( sodium 131 mEq / L and potassium 6.1 mEq / L, respectively )",
"normal male genitalia, descended testes, and no evidence of precocious adrenarche or puberty",
"normal testes with Tanner stage V pubic hair",
"normal serum electrolytes"
] | [] | [
". At the time of diagnosis proband was of normal growth and stature ( height=107 cm, z -score=-0.4, 32nd percentile; weight=20.8 kg, z -score=+0.8, 80th percentile; body mass index=18.2 kg / m 2 ).",
"He was obese with normal stature ( height=170 cm, z -score=-0.8, 21st percentile; weight=110 kg, z -score=+2.4, ... | [] | [
"no hirsutism"
] | [] | [] | [
"17 years of age",
"age of 15 and 11 months"
] | [
"4 years of age ,",
"3 - year - old"
] | [
"If p. R124C is pathogenic , the most likely phenotype due to compound heterozygosity for p. R124C and a large deletion would be NC CAH",
"a diagnosis of NC CAH was confirmed"
] | [
"replacement doses of hydrocortisone and fludrocortisone"
] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | [
"height 149.0 cm, weight 39.2 kg, BMI 17.7 kg / m 2"
] | [
"no history of neonatal jaundice or chronic infantile diarrhea"
] | [
"The patient was a 50 - year - old Japanese woman from non - consanguineous parents. She has no siblings but had a child. There was no apparent family history ( parents, child and parent ’s siblings ) of neurological disorders, cardiovascular diseases or any lipid storage diseases inducing xanthomas, including CTX.... | [
"did not have dementia based on the Revised Hasegawa Dementia Scale ( HSD - R; 26/30 ), Mini - Mental State Examination ( MMSE; 27/30 ), and Frontal Assessment Battery ( FAB; 16/18 ) scores. On a neurological examination, her gait appeared somewhat spastic, and all of her deep tendon reflexes were mildly enhanced b... | [
"no elevation in the levels of serum cholesterol or triglycerides or deficiencies in apolipoproteins or thyroid hormones",
"The primary bile acids were extremely low in the serum and urine when measured by both high - performance liquid chromatography ( HPLC ) and gas chromatography / mass spectrometer ( GC / MS ... | [
"Ultrasound of the carotid arteries showed a slightly thickened intima - media complex at the left common carotid artery ( maximum intima - media thickness, 1.2 mm ). However, there was no evidence of cardiovascular disease on electrocardiogram, echocardiography and MR angiography of the brain and lower extremities... | [] | [] | [] | [
"xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle",
"osteoporosis as determined by dual - energy X - ray absorptiometry, which showed a bone density of 61 % and 75 % the young - adult - mean in the lumbar vertebra and femoral neck, respectively",
"painless tendon thickness of the... | [
"age - appropriate slight cataracts in the bilateral eyes"
] | [] | [
"no history of neonatal jaundice"
] | [] | [
"50 - year - old"
] | [
"7 to 10 years of age"
] | [
"the patient was diagnosed with CTX"
] | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | [] | [
"poor feeding by breast and bottle"
] | [] | [
"hypotonic, irritable, and demonstrated poor feeding by breast and bottle",
"in utero hiccups",
"seizure - like activity",
"seizures since birth",
"MRI showed myelination confined to the brainstem, central cerebellum, and posterior limbs of the internal capsule ( Fig. 1 ). There was T2 hyperintensity of the... | [
"MRI showed myelination confined to the brainstem, central cerebellum, and posterior limbs of the internal capsule ( Fig. 1 ). There was T2 hyperintensity of the white matter ( Fig. 2 ) and superior vermian volume loss ( Fig. 3 ). The corpus callosum was unmyelinated. MRI spectroscopy revealed a low N - acetylaspar... | [] | [] | [] | [] | [] | [] | [] | [
"born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate"
] | [] | [
"age of 3 months"
] | [
"in utero"
] | [
"The elevation of these 2 compounds confirmed the diagnosis of adenylosuccinate lyase deficiency ."
] | [] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | [] | [] | [
"This patient was a 4 - year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added",
"Reports of head drop attacks were found in the history",
"This patient was a 4 year -... | [
"head drop attacks",
"deep tendon reflexes were diminished or absent. Although cognitive function of this patient was normal, motor and speech development was delayed. Two years later, development of seizure and tremor was reported. Tremor was evident in all limbs on physical examination",
"development of neuro... | [
"Laboratory serologic tests were normal. Radiography of both hands showed reduction in density of bones, swelling of both wrists, deformity of wrist bones, marginal erosion of wrist bones and distal phalanges in PIP and DIP joints which all were suggestive of advanced juvenile idiopathic arthritis ( JIA ). Chest X ... | [] | [] | [] | [
"Chest X - ray also showed alveolar opacities with air bronchogram in the upper lobe of right lung which were in favor of pneumonia",
"Bronchoscopy showed a circular contraction in subglottic region of larynx",
"wheezing",
"admitted 4 times due to respiratory distress. Finally she died from respiratory failur... | [
"wrist swelling",
"Swelling of other joints were gradually added",
"swelling and limitation in range of motion was detected in PIP, MCP, wrist, elbow and shoulder joints of upper limbs and PIP, MTP, tarsal joints and ankle in lower limbs. Multiple firm subcutaneous nodules were found on joints – mainly on exten... | [
"Progressive hoarseness was present",
"Progressive hoarseness was also present. Extensive mucosal lesions were detected in the oral cavity",
"nasal swelling",
"progression of hoarseness",
"admitted 4 times due to respiratory distress. Finally she died from respiratory failure in one episode at 4 years old",... | [
"Cutaneous lesions were also seen on abdomen",
"appearance of cutaneous lesions on the body"
] | [
"delivered by cesarean section without any insult",
"delivered by NVD who was term on birth",
"delivered by NVD without any insult"
] | [] | [
"4 - year old",
"4 year - old",
"9 - month old"
] | [
"6 months of age",
"7 months of age"
] | [
"confirmed the presence of Farber disease in this patient"
] | [
"Bone marrow transplantation was suggested as a treatment strategy for the patient"
] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | [
"His heart rate was 120 beats per minute and his blood pressure was 100/65 mmHg. His weight and height were 12.8 kg ( 1.5 SDS ) and 86 cm ( 2 SDS ), respectively",
"his body weight and length were 16.7 kg ( 0.5 SDS ) and 99.7 cm ( 1.5 SDS ), respectively"
] | [
"imperforate anus",
"tracheoesophageal fistula was not suspected clinically",
"anal atresia",
"abdomen was distended and discolored",
"bowel necrosis",
"peritonitis",
"peritonitis",
"occasional nausea and vomiting"
] | [
"A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score ) and 52.5 cm ( z -score, +1.4 SDS ), respectively. There ... | [
"He was able to ascend stairs with the support of a hand grasp. He could stack 3 cubes, eat without assistance, and pronounce 10 words, meaning that the patient ’s developmental status was normal for his age",
"normal growth and development"
] | [
"echocardiography revealed a patent ductus arteriosus",
"Bilateral grade 3 vesicoureteral reflux ( VUR ) was revealed via voiding cystourethrography. Spine ultrasound revealed no vertebral anomalies, and tracheoesophageal fistula was not suspected clinically",
"Laboratory test results, including electrolyte lev... | [
"A grade 2 systolic murmur was heard in the left upper sternal border and echocardiography revealed a patent ductus arteriosus",
"hypotensive"
] | [] | [
"normal male genitalia, with both testes palpable",
"Bilateral grade 3 vesicoureteral reflux ( VUR ) was revealed via voiding cystourethrography",
"renal anomalies",
"normal male genitalia",
"slightly decreased sodium level ( 132 mmol / L ) but normal potassium ( 4.8 mEq / L )",
"no abnormalities, such as... | [] | [
"postaxial polydactyly of the left foot",
"Spine ultrasound revealed no vertebral anomalies",
"limb abnormalities",
"postaxial polydactyly of the left foot"
] | [] | [
"slight bronzing of the patient ’s skin after repeated surgeries",
"generalized hyperpigmentation",
"child 's hyperpigmentation was markedly exacerbated after exploratory laparotomy for the episode of peritonitis with sepsis",
"hyperpigmentation",
"generalized hyperpigmentation",
"generalized hyperpigment... | [
"born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score ) and 52.5 cm ( z -score, +1.4 SDS ), respectively"
] | [] | [] | [] | [
"This variant has been previously reported in association with CLAH ."
] | [
"Hydrocortisone ( 7.8 mg / m 2 /day ) and fludrocortisone ( 50 μg / day ) were started as therapy for primary adrenal insufficiency . The dose of hydrocortisone was gradually increased until the age of 24 months for sufficient ACTH suppression and levels of ACTH and cortisol were subsequently decreased to the optim... |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | [] | [
"chronic diarrhea",
"remission of diarrhea",
"chronic diarrhea",
"Three months later, diarrhea was disappeared",
"diarrhea recurred"
] | [
"We report a 38 - year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties",
"chronic diarrhea, scoliosis and bilateral cataract surgery at age 25"
] | [
"progressive spastic paraparesis in her twenties.",
"the patient developed psychosis and an severe ataxospastic gait.",
"All patients presented pyramidal signs and 48 % had dorsal column signs",
"A 38 - year - old woman presented with progressive muscle stiffness, calf cramps and urinary frequency appeared in... | [
"Brain magnetic resonance imaging ( MRI ) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirmed the diagnosis of CTX.",
"Spinal MRI revealed new linear hyperintensities of the corticospinal and gracile tracts.",
"Brain MRI sh... | [] | [] | [
"urinary frequency"
] | [] | [
"progressive muscle stiffness, calf cramps",
"scoliosis",
"did not found any tendinous xanthomas"
] | [
"bilateral cataract"
] | [] | [] | [] | [
"38 - year old"
] | [
"her twenties",
"her twenties"
] | [
"CYP27A1 gene sequencing confirmed the diagnosis of CTX .",
"confirmed CTX diagnosis ."
] | [
"Chenodeoxycholic acid ( CDCA ) treatment was introduced with remission of diarrhea",
"Disease improvement or stabilization with chenodeoxycholic acid was observed in 69 % of patients",
"A treatment with 750 mg / d chenodeoxycholic acid ( CDCA ) and 20 mg / d simvastatine was introduced"
] |
7882281 | {'Case presentation': 'All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s parents. An 8-... | [] | [
"recurrent abdominal pain and vomiting",
"abdominal pain",
"multiple episodes of vomiting",
"no sign of perianal diseases",
"recurrent vomiting"
] | [
"An 8 - year - old girl of non - consanguineous parents from southern China with history of recurrent abdominal pain and vomiting since 4 years of age presented to the gastroenterology department"
] | [
"muscle weakness during attacks."
] | [
"Inflammatory markers, including C - reactive protein and erythrocyte sedimentation rate were within normal limits. Other laboratory investigations showed a lactate of 2.9 mmol / L, pH of 7.311, serum free fatty acid of 2.161 mmol / L.",
"serum tandem mass spectrometry was performed, and showed C10 of 1.29 µM, C8... | [] | [] | [] | [] | [] | [] | [] | [] | [] | [
"8 - year - old"
] | [
"4 years of age"
] | [
"This patient was diagnosed with late - onset MADD"
] | [
"treated with riboflavin with a dosage of 100 mg / day"
] |
7369454 | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | [] | [] | [
"angioid streaks, atrophic retinal break of the right eye, angina pectoris, myocardial infarction, peripheral artery disease, coronary artery disease, vitreous degeneration, and bilateral posterior vitreous detachment"
] | [] | [
"OCT imaging of the lax axilla skin displayed large areas of hyporeflective, homogeneous areas of attenuation, or signal loss, in the mid dermis ( Fig 3 ). In contrast to normal skin, which attenuates the image at about 0.7 to 0.9 mm, the depth of the PXE image exhibits relative superficial attenuation of 50 % at 0... | [
"angina pectoris, myocardial infarction, peripheral artery disease, coronary artery disease"
] | [] | [] | [] | [] | [
"angioid streaks, atrophic retinal break of the right eye,",
"vitreous degeneration, and bilateral posterior vitreous detachment"
] | [
"yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin.",
"lax and redundant skin",
"OCT imaging of the lax axilla skin displayed large areas of hyporeflective, homogeneous areas of attenuation, or signal loss, in the mid dermis ( Fig ... | [] | [] | [
"65 - year - old"
] | [] | [
"long - standing , biopsy - proven diagnosis of PXE"
] | [] |
7695813 | {'Case 2': 'A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27. The diagnosis was confirmed by genetic testing, with the prompt initiation of chenodiol therapy. She has bee... | [] | [
"irregular bowel movements",
"loose stools",
"early onset of frequent diarrhea"
] | [
"A woman in her 40s, who had 2 family members with CTX, struggled with irregular bowel movements from an early age. She developed cataracts at the age of 11 years and was diagnosed with CTX at age 27",
"A woman in her 50s, who has 2 family members formally diagnosed with CTX, had loose stools from childhood. She ... | [
"cerebellar lesions",
"patient did not have neurologic deficits",
"Significant neurologic involvement developed in the patient, which progressively led to her becoming nonambulatory and wheelchair - bound",
"severe cognitive decline",
"magnetic resonance imaging of the brain showed a mild increased T2 signa... | [
"most recent imaging showed cerebellar lesions",
"magnetic resonance imaging of the brain showed a mild increased T2 signal within the dentate nucleus"
] | [
"no known cardiovascular involvement",
"no known cardiovascular disease",
"no known cardiovascular disease"
] | [] | [] | [] | [
"tendon xanthomas on the fingers and toes, which required debulking, as well as plantar and Achilles xanthomas. She reported no new xanthomas and no changes in the existing xanthomas over 10 years",
"acquired xanthomas of the Achilles, knee, and elbow. Her existing xanthomas have remained stable, with no new xant... | [
"cataracts",
"cataracts",
"visual impairment",
"cataracts"
] | [] | [] | [] | [
"her 40s",
"in her 50s",
"her 30s"
] | [
"early age",
"childhood",
"infancy"
] | [
"diagnosed with CTX at age 27",
"CTX at 38 years , which was confirmed by genetic testing .",
"At the age of 14 years , she was formally diagnosed with CTX , which was confirmed by genetic testing ."
] | [
"prompt initiation of chenodiol therapy . She has been on chenodiol consistently since the diagnosis at age 27 .",
"She started chenodiol at the time of the diagnosis",
"Chenodiol ( chenodeoxycholic acid ) therapy was initiated at diagnosis , and she has remained on chenodiol since that time"
] |
7809922 | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | [
"SPO 2 86 %",
"130 bpm",
"blood pressure 80/59 mmHg"
] | [
"abdominal pain",
"recurring abdominal pain and bloating ( almost once per month )",
"incomplete intestinal obstruction",
"abdominal pain spontaneously disappeared",
"abdominal pain and constipation returned"
] | [
"A 37 - year - old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital ( May 2019 ). Her symptoms had started 4 months previously ( January 2019 ). The initial symptoms included recurring abdominal pain and bloating ( almost once... | [
"muscle weakness, and a disorder of consciousness",
"patient ’s awareness gradually recovered",
"Muscle power of the limbs was 0/5 proximally and 2/5 distally. Furthermore, sensation and cranial nerve examinations were normal",
"Cranial computed tomography ( CT ) and abdominal CT did not indicate any abnormal... | [
"an abdominal flat plate X - ray showed incomplete intestinal obstruction",
"Urgent arterial blood gas analysis on ICU admission indicated severe hypoxemia and respiratory acidosis ( pH : 7.153, PO 2 : 66 mmHg, PCO 2 : 50.2 mmHg, and PO 2 /FiO 2 : 110 mmHg );",
"Cranial computed tomography ( CT ) and abdominal ... | [
"uncorrectable hypoxemia ( SPO 2 86 % ), tachycardia ( 130 bpm ), and hypotension ( blood pressure 80/59 mmHg )"
] | [] | [
"serum creatinine was elevated at 350.5 µmol / L ( normal range : 44–133 µmol / L ), and urea nitrogen was elevated at 22.23 mmol / L ( normal range : 2.9–7.5 mmol / L )",
"color of the patient ’s urine turned visibly reddish on exposure to sunlight",
"urine returned to a normal color"
] | [
"dyspnea,",
"uncorrectable hypoxemia ( SPO 2 86 % )",
"severe hypoxemia and respiratory acidosis",
"stubborn respiratory failure",
"patient was unable to be removed from the ventilator",
"chest CT showed patchy exudation of the lower lungs",
"diaphragm displacement during spontaneous breathing mode was ... | [] | [] | [] | [] | [] | [
"37 - year - old"
] | [] | [
". A diagnosis of AIP was finally confirmed by genetic analysis"
] | [
"Because heme arginate is not available in mainland China , the patient was treated with intravenous glucose infusion ( 50 % ) ."
] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | [
"Increased leukocyte count, neutrophil ratio",
"T ≤ 38.2 ° C )"
] | [
"eating difficulty",
"Chronic diarrhea was absent"
] | [
"A 47 - year - old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily life, but he... | [
"history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily life, but he was unable to do housework",
"psychiatric signs",
"Cerebr... | [
"There was a significant increase in the concentration of free fatty acid compared to normal range. Doppler ultrasound of the urinary system showed multiple left kidney stones, a right kidney cyst, and a hypoechoic area in the bladder, which could move with body position. Sagittal and axial magnetic resonance imagi... | [] | [] | [
"multiple left kidney stones, a right kidney cyst, and a hypoechoic area in the bladder, which could move with body position",
"Sediments in the bladder",
"history of renal calculus",
"Sediments in the bladder",
"Doppler ultrasound of the urinary system showed multiple left kidney stones, a right kidney cys... | [] | [
"apparent enlargement of the right Achilles tendon and upper medial malleolus flexor tendon, abnormal thickening of the plantar fat, and a small amount of exudation around the fascia in front of the Achilles tendon",
"Enlarged Achilles tendons and nodules on the bilateral tibial tubercles were observed",
"enlar... | [
"no evidence of cataract"
] | [
"dark skin",
"no evidence of cataract or xanthomas at other sites such as the eyelids"
] | [] | [] | [
"47 - year - old",
"47 - year - old"
] | [] | [
"CTX",
"CTX"
] | [] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | [] | [
"poor feeding and poor weight gain."
] | [
"A 15â€dayâ€old 46, XY neonate presented with severe adrenal insufficiency",
"At 2 years and 5 months, she underwent bilateral gonadectomy"
] | [] | [
"Laboratory tests revealed severe hyponatremia ( 115 mEq / L ) and hyperkalemia ( 8.6 mEq / L ).",
"Not only mineralocorticoids and glucocorticoids, but also adrenal androgens and their metabolic products were barely detectable. On the other hand, concentrations of adrenocorticotropic hormone were extremely high,... | [] | [
"severe adrenal insufficiency",
"Leydig cells were observed both with and without lipid droplets in the testes of this patient. We also demonstrated immunohistochemically that some testosterone‐synthesizing enzymes were maintained in this patient",
"severe hyponatremia ( 115 mEq / L ) and hyperkalemia ( 8.6 mEq... | [
"severe hyponatremia ( 115 mEq / L ) and hyperkalemia ( 8.6 mEq / L ).",
"Bilateral gonads were not palpable but were detectable near the internal inguinal rings on ultrasonography and MRI",
"Both gonads were identified as normal testes accompanied by vas deferens and epididymis. The testes measured 16 × 10 × 6... | [] | [] | [] | [
"Hyperpigmentation suggestive of adrenal insufficiency was noted"
] | [
"born at full term with completely normal female external genitalia. No abnormalities were identified in routine newborn screenings."
] | [] | [
"15‐day‐old"
] | [
"15‐day‐old"
] | [
"Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations ."
] | [
"hydrocortisone",
"adrenocortical hormone replacement therapy"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | [
"blood in the urine"
] | [
"abdominal pain, constipation",
"vomiting",
"vomiting, severe intermittent pain in the abdomen",
"abdominal pain, constipation,",
"vomiting"
] | [
"A gynecologist examined 26 - year - old patient in the 8th week of gestation, due to initial spontaneous abortion, abdominal pain, constipation, muscle weakness, vomiting and dark colour of urine. Previously, she had had a seizure attack at home",
"In her personal history she stated to have had a porphyria"
] | [
"seizure attack at home",
"reached full orientation and cooperativeness within few minutes. The post - intervention period remained uneventful and the neurological and psychological symptoms returned to the pre - exacerbation status",
"patient developed grand mal seizures and expressed agitation. Seizures reach... | [
"In laboratory findings porphyrin derivatives ( delta aminolevulinic acid 7.76 mg / dU- ( reference range 1.5 - 7.5 ) and porphobilinogen 16.84 mg / dU- ( reference range 0 - 3.4 ) were elevated",
"Porphyria markers decreased within the next four weeks",
"The brain CT pointed atthe left parietal paramedian hypo... | [] | [
"The first attack in our patient was most probably provoked by taking hormonal contraception",
"The last four months the patient was on oral contraceptives ( 0.035 mg ethinyl estradiol and 2.0 mg cyproteronacetat ) due to irregular menstrual cycles",
"Her therapy was dydrogesterone."
] | [
"dark colour of urine",
"frequent urination, blood in the urine",
"irregular menstrual cycles",
"pronounced hyponatremia, hypokalemia, hypomagnesemia, and hypocalcaemia",
"dark colour of urine"
] | [] | [
"muscle weakness",
"muscle weakness"
] | [] | [] | [
"8th week of gestation, due to initial spontaneous abortion, abdominal pain",
"8th week of gestation, due to initial spontaneous abortion, abdominal pain,"
] | [] | [
"26 - year - old patient",
"26 - year - old"
] | [] | [
"AIP"
] | [
"she was given haem arginate , glucose and symptomatic drugs , and she recovered completely",
"she was given haemarginate , glucose"
] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | [
"mild anemia and splenomegaly",
"normal complete blood count",
"enlarged spleen 4 cm below the left costal margin. Blood investigation showed pancytopenia",
"normal serum iron profile",
"Total white blood cell count ( 4000 - 11,000 / mm 3 ) 1700 / mm 3 3600 / mm 3 4500 / mm 3 Platelets ( 150,000 - 450,000 /... | [] | [
"presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose",
"She died at the age of 24 from a secondary infection",
"A 35 - year - old woman, bo... | [] | [
"Laboratory reports revealed a normal complete blood count but an abnormal porphyrin profile",
"In case patients 1 and 3, sequencing of the UROS gene, exons 1 to 10 including flanking intronic regions, showed a homozygous transversion of T to G at nucleotide 416 in exon 7 ( c.416T > G ) leading to an L139R protei... | [] | [] | [
"Wood 's lamp examination revealed pink - red fluorescence of the urine",
"red discharge in her diaper"
] | [] | [
"bilateral extremities showed sclerodermatous contracture and acro - osteolysis",
"Acro - osteolysis and contracture of the bilateral hands",
"progressive bilateral deformities of the hands",
"progressive deformities of both hands",
"mutilations of both hands",
"progressive deformities of her hands",
"d... | [
"having had photophobia and diminished vision in the right eye",
"partial absorption of both ears; and brownish - pink - colored teeth",
"Ectropion and bilateral keratoconjunctivitis were apparent",
"recurrent keratoconjunctivitis and complications",
"microstomia ( Fig 3 ), erythrodontia",
"Wood 's lamp e... | [
"photoinduced skin blistering of the face and extremities",
"associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose",
"sclerodermatous changes and hypopigmented and hyperpigmented scars over the face and extremities ( Fig 2, A ); partial absorption of both ears",
"Hypertr... | [] | [] | [
"35 - year - old",
"17 - year - old"
] | [
"presented at the age of 18 years",
"birth"
] | [] | [
"The patients were advised to use strict photoprotection"
] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | [] | [] | [
"The proband was born full - term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg / dL."
] | [] | [
"Laboratory evaluation showed low cortisol at < 0.2 µg / dL ( both at time of hypoglycemia and following 1 µg adrenocorticotropic hormone stimulation test, with normal for these being ≥18 µg / dL )",
"he developed hyponatremia ( sodium 130 mmol / L ) and hyperkalemia ( potassium 7.2 mmol / L )",
"Additional neo... | [] | [
"persistent hypoglycemia with blood glucoses of 20 to 30s mg / dL.",
"low cortisol at < 0.2 µg / dL ( both at time of hypoglycemia and following 1 µg adrenocorticotropic hormone stimulation test, with normal for these being ≥18 µg / dL ),",
"adrenal insufficiency",
"hyponatremia ( sodium 130 mmol / L ) and hy... | [
"bilateral descended testes and a fused scrotum with a small phallus ( 1.5 cm × 0.08 cm )",
"hyponatremia ( sodium 130 mmol / L ) and hyperkalemia ( potassium 7.2 mmol / L"
] | [] | [] | [] | [] | [
"born full - term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg / dL."
] | [] | [] | [] | [
"confirming a diagnosis of LCAH ."
] | [
"hydrocortisone",
"Fludrocortisone"
] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | [] | [] | [
"An 18 - year - old woman came in with swelling in her ankles and a cognitive decline"
] | [
"cognitive decline",
"frequent stumbles and difficulty walking, followed by ataxia",
"Spastic paraparesis, rapid deep reflexes, and extensor plantar responses were discovered during a neurological examination. The Romberg test resulted in a positive result with 1 eye closed.",
"On T2 weighted and FLAIR sequen... | [
"Total cholesterol, LDL, HDL, and triglyceride levels were all within normal limits. Otherwise, the amounts of cholestanol and bile alcohol in the bile and urine were high. An ultrasound of the ankles and knees revealed well - defined, homogeneous, hyperechoic masses that had nearly completely replaced the tendons ... | [] | [] | [] | [] | [
"swelling in her ankles",
"bilateral increasing ankle edema.",
"knees swelled",
"Over all Achilles, quadriceps, and patellar tendons, the osteo - myo - articular examination revealed bilateral painless and non - fistulized masses",
"An ultrasound of the ankles and knees revealed well - defined, homogeneous,... | [
"sight issues.",
"A bilateral thick cataract with impaired vision"
] | [] | [] | [] | [
"18 - year - old"
] | [
"7 years old"
] | [
"CTX"
] | [] |
8138145 | {'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characteriz... | [] | [] | [
"presenting dermatosis in the neck with a 3 - month evolution",
"severe visual acuity diminution and angioid striae of the retina"
] | [] | [
"The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells of the lower third. A perivascular inflammatory infiltrate formed by lymphocytes was observed in the papillary dermis and ... | [] | [] | [] | [] | [] | [
"severe visual acuity diminution and angioid striae of the retina",
"Fundus examination in both eyes revealed classic - appearing angioid streaks with crystalline spots, retinal pigment with epithelial atrophy ( peripapillary ), and choroidal neovascularization",
"ocular findings"
] | [
"dermatosis in the neck",
"confluent papules, of 2 to 3 mm approximately, discretely hyperpigmented and asymptomatic",
"The biopsy showed anfractuous epidermis, with stratum corneum in basket weave, the stratum spinosum thinned with flattening of the interpapillary projections and hyperpigmentation of the cells... | [] | [] | [
"36 years",
"59 years"
] | [] | [
"These clinical and histopathological findings confirmed the diagnosis of pseudoxanthoma",
"With the histopathological study and fundus examination findings , the diagnosis of PXE was confirmed this case ."
] | [] |
8771597 | {'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangio... | [
"heart rate of 90 bpm and blood pressure of 160/90 mmHg",
"hemoglobin, electrolytes, hepatic transaminases, amylase, thyroid function, protein electrophoresis, and C - reactive protein were normal"
] | [
"Recurrence of abdominal pain, nausea, and vomiting",
"proctitis",
"intense abdominal pain",
"intermittently tender, non - distended abdomen with normal bowel sounds and absent rigidity, rebound, and guarding",
"distended colon and fecal impaction",
"rectal blood",
"proctitis",
"abdominal pain and con... | [
"Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient",
"The patient had no known family history of porphyria",
"transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephro - pathy",
"treated for hypertension since 1994 and developed ische... | [
"anxiety",
"AIP",
"mild distress",
"anxious mood and low energy level",
"agitation and anxiety"
] | [
"His urinary postprandial blood glucose level was 60 mg/24 h ( normal, < 2 mg/24 h",
"Plain X - rays of the abdomen showed distended colon and fecal impaction, and ultrasound revealed that the liver, spleen, pancreas, and transplanted kidney were of normal size and consistency and that the site of the left nephre... | [
"hypertension",
"hemodynamically stable",
"tachycardia and an increase in blood pressure",
"thoracic pain",
"precordial pain",
"for hypertension",
"ischemic heart disease"
] | [
"diabetes mellitus which required insulin",
"diabetes mellitus"
] | [
"suspected nephroangiosclerosis and chronic interstitial nephro - pathy",
"Renal function was stable with a serum creatinine of 1.2 mg / dL; the urine culture was negative",
"His renal function gradually deteriorated over the years due to suspected nephroangiosclerosis and chronic interstitial nephropathy",
"... | [] | [] | [] | [] | [] | [] | [
"65 - year - old",
"65 - year - old"
] | [] | [] | [
"He was placed on a high carbohydrate diet ,"
] |
9006764 | {'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in s... | [] | [] | [
"A 14 - year - old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present",
"A history of skin laxity or joint hypermobility was absent",
... | [] | [
"Hematoxylin and eosin ( H&E ) stained microsections examined from the skin biopsy submitted showed, a prominent granular layer with mild spongiosis and basal layer vacuolization. The papillary dermis was mildly edematous with evidence of mild lymphoplasmacytic infiltrate along with few histiocytes. The mid and low... | [] | [] | [] | [] | [
"joint hypermobility was absent"
] | [] | [
"few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in size. A history of pruritis was present",
"skin laxity or joint hypermobility was absent",
"2–5 mm lesions ( milia ) over face",
"Hematoxylin and eosin ( H&E ) stained microsectio... | [] | [] | [
"14 - year - old"
] | [] | [
"Based on characteristic histopathology features , a diagnosis of PXE was offered"
] | [] |
9263244 | {'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made p... | [
"Blood pressure remained normal"
] | [] | [
"A 24 - year - old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease ( CKD ) was referred for preconception counseling",
"There were no overt extra - renal complications apart from mild photophobia",
"The infant had normal growth and development at 18 months and a normal leucocy... | [] | [
"Cystinosis was confirmed by an elevated leucocyte cystine level in infancy",
"Her average prepregnancy urine protein - to - creatinine ratio was 132 mg / mmol, α1 - microglobulin - to - creatinine ratio was 30.7 mg / mmol, and estimated glomerular filtration rate ( eGFR ) was 89 ml per minute per 1.73 m 2",
"p... | [] | [] | [] | [] | [] | [
"mild photophobia"
] | [] | [
"Blood pressure remained normal with no evidence of gestational hypertension or pre - eclampsia",
"The pregnancy was complicated by recurrent urinary tract infections ( UTIs ) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia",
"She ... | [] | [
"24 - year - old"
] | [
"infancy"
] | [
"with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease ( CKD )"
] | [
"Cysteamine was reinitiated immediately after delivery"
] |
9344108 | {'Case Report': 'A 32-year-old female (gravida 4 para 3) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia (CAH). The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic asse... | [] | [] | [
"A 32 - year - old female ( gravida 4 para 3 ) presented to her obstetrician with her next pregnancy following the birth of a previous female child with classical congenital adrenal hyperplasia ( CAH )",
"surfacing of psychological issues for the proband sibling with regards to her external genitalia"
] | [] | [
"A postnatal follow - up MRI of the patient on day 10 of life showed a total brain volume ( 300.82 cm 3 ) that was below the 5th percentile for age - matched, healthy infants",
"The neonate had an elevated serum 17 - OHP of 11,500 ng / dL ( normal range for term newborns within 12 h of birth : ≤460 ng / dL ), a... | [] | [
"Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds",
"no concerns for adrenal crisis"
] | [
"Prader stage 3, with clitoral width 1 cm, stretched clitoral length 1 cm, and noticeable hyperpigmentation and rugation of the labioscrotal folds"
] | [] | [] | [] | [
"hyperpigmentation and rugation of the labioscrotal folds."
] | [
"The estimated fetal age was 15 weeks and 4 days at the time of presentation based on initial sonographic assessments. At 19.42 gestational weeks ( GWs ), ultrasound revealed genitalia that were female - appearing but ambiguous or atypical. A karyotype indicated the fetus was 46,XX with no chromosomal abnormalities... | [] | [
"fetal age was 15 weeks and 4 days"
] | [] | [
"prenatal diagnosis of CAH due to 21 - hydroxylase deficiency"
] | [] |
9637264 | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | [] | [
"severe abdominal pain, constipation",
"severe abdominal pain",
"abdominal pain"
] | [
"severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the patient developed an attack of generalized tonic - clonic seizure associated with low - grade fever"
] | [
"headache",
"an attack of generalized tonic - clonic seizure",
"confused in post ictal state. Otherwise, the neurological and general examination was unremarkable",
"Urgent brain computed tomography ( CT ) scan showed brain edema",
"began to become agitated",
"weakness in both lower limbs, right more than... | [
"Urgent brain computed tomography ( CT ) scan showed brain edema",
"abdominopelvic CT scan with contrast was done, which revealed marked distention of large bowel, and no definite air - fluid level or obstructing masses",
"The initial results of laboratory investigation revealed marked electrolyte disturbances;... | [
"hemodynamically stable"
] | [
"polyuria, and polydipsia"
] | [
"marked electrolyte disturbances; sodium level : 108 milliequivalents per liter ( mEq / L ), potassium level : 2.7 mEq / L, total calcium level : 4.9 mg / dl, ionized calcium level : 3.5 mg / dl, magnesium level : 0.7 mEq / L, and phosphorus level : 2.1 mEq / L ( table 1",
"polyuria, and polydipsia",
"renal tub... | [
"respiratory muscle involvement"
] | [
"developed generalized muscle pain",
"weakness in both lower limbs, right more than left, which was rapidly progressing to involve upper limbs associated with trunk muscle affection till the patient became quadriplegic",
"respiratory muscle involvement",
"weakness"
] | [] | [] | [] | [] | [
"13 - year - old"
] | [
"13 - year - old"
] | [
"confirmed the diagnosis of autosomal dominant AIP"
] | [
"The patient received dextrose 25 % and 2 doses of hemin 250 mg once daily for four days , 2 weeks apart followed by another dose after 2 months . There was a marked improvement regarding the weakness , and abdominal pain , and we managed to wean her from mechanical ventilation ."
] |
9511195 | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | [] | [
"intermittent abdominal pain accompanied by changes in stool habits",
"mild tenderness in the right lower abdomen",
"intermittent abdominal pain accompanied by changes in stool habits",
"no abdominal distention, nausea, vomiting, constipation, or diarrhea",
"mild tenderness only in the right lower abdomen"
... | [
"The patient was a 32 - year - old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms.",
"she underwent laparoscopic radical right hemicolectomy for asc... | [] | [
"Preoperative abdominal contrast - enhanced computed tomography ( CT ) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery ( SMA ). On the other side, the SMA and superior mesenteric vein ( SMV ) were found to be accompanied like “ X”-shaped variant... | [] | [] | [] | [] | [] | [] | [] | [] | [] | [
"32 - year - old",
"32 - year - old"
] | [] | [
"The final surgical pathological diagnosis was pT3N1aM0 adenocarcinoma of the ascending colon . Given the patient ’s family history of colon and uterine cancer combined with the results of immunohistochemical staining and next - generation sequencing , we concluded that she had Lynch syndrome ( LS"
] | [] |
9243374 | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | [
"On presentation, she was afebrile ( 36.7 ° C ), had a normal heart rate ( 85 beats per minute ), normal respiratory rate ( 16 breaths per minute ), and was normotensive ( 121/80 mmHg )."
] | [
"no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bloating sensation",
"severe nausea and negligible improvement of her abdominal pain",
"The abdomen was soft, nondistended, with mild upper abdominal and periumbilical tenderness",
"Her appetite improved, but her... | [
"A 22 - year - old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections ( UTIs ), previously diagnosed by her primary care physician, presented with an 8 - day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a fullness or bl... | [
"alert and oriented to time, place, and person without any objective signs of anxiety, depression, psychosis, or other appreciable psychiatric disturbances"
] | [
"Laboratory examinations were remarkable only for hyponatremia of 130 mEq / L and hypoalbuminemia at 3.4 g / dL. Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm / kg and urine sodium was 100 mEq / L",
"Her initial computerized tomography ( CT ) sc... | [] | [] | [
"dysmenorrhea and recurrent urinary tract infections ( UTIs ),",
"recurrent UTIs",
"dysmenorrhea",
"hyponatremia of 130 mEq / L",
"Urine analysis with reflex culture was negative for leukocyte esterase and nitrites. Urine osmolality was 410 mOsm / kg and urine sodium was 100 mEq / L",
"no family history o... | [] | [] | [] | [] | [] | [] | [
"22 - year - old"
] | [] | [
"biochemical diagnosis of AIP ."
] | [
"Intravenous ( IV ) hematin 1 mg / kg / d and IV dextrose were given for 3 days . After hematin / dextrose therapy , her abdominal pain and bowel symptoms resolved"
] |
9291265 | {'CASE REPORT': 'A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions. On examination, she has glut... | [
"low hemoglobin ( 9.5 g / dL )"
] | [] | [
"A 12‐year‐old girl, born from consanguineous marriage, was presented with a five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions."
] | [] | [
"A four‐mm punch biopsy showed perifollicular focal para‐keratotic hyperkeratosis of the epidermis. The dermis was slightly edematous and contain ectatic capillaries. There was a lymphocytic and histiocytic infiltrate ( Figure 4 ). IHC was positive for CD68",
"Biological data showed low hemoglobin ( 9.5 g / dL ) ... | [] | [] | [
"hyperpigmentation of labia majora"
] | [] | [
"finger and toe flexion contracture ( camptodactyly and hallux valgus )"
] | [
"deformation of teeth",
"hearing loss in the early childhood",
"Ophthalmological examination showed chorioretinal atrophy"
] | [
"five‐year progressing bilateral, symmetrical, hyperpigmented, and thickened patches with hypertrichosis. These lesions were present not only in the inner thighs but also in pubic and lumbar regions",
"gluteal lipodystrophy, swelling with hyperpigmentation of labia majora",
"Erythematous, annular, and figurate ... | [] | [] | [
"12‐year‐old"
] | [] | [
"H Syndrome was diagnosed based on histological , immunohistochemical ( IHC ) examination and molecular analysis ."
] | [] |
9718918 | {'CASE PRESENTATION': 'A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweigh... | [] | [] | [
"A 31‐year‐old mentally disabled man was referred to our neurologic clinic with a gradually worsening gait disorder, impaired balance, and repeated falling episodes. The patient was the third child of consanguinity marriage. He was delivered following a normal term pregnancy with normal birthweight and height. Hist... | [
"gradually worsening gait disorder, impaired balance, and repeated falling episodes",
"school dropout due to intellectual and neuropsychiatric disability. He had developmental delays in the mental functioning and speech",
"severe gait disturbance and ataxia since 3–4 years ago. He had frequent falling episodes"... | [
"The laboratory results were normal for the thyroid, liver, and kidney function, serum electrolytes, and triglyceride and cholesterol level. A brain magnetic resonance imaging ( MRI ) discovered cerebral and cerebellar atrophy, high‐intensity areas in the dentate nuclei, and symmetric hyperintensities in the cerebe... | [] | [] | [
"he was infertile",
"Testicular ultrasound showed that the size of the testes was in the lower limit of normal range with a normal epididymis and vein plexus. Semen analysis showed azoospermia."
] | [] | [
"bilateral tendinous swelling of the posterior part of the ankles that worsened over time",
"multiple bone fractures",
"bilateral and symmetrical painless hypertrophy of the Achilles tendons",
"muscle weakness predominant in the distal muscles of upper and lower limbs ( MRC score of 3 in the foot dorsiflexion... | [
"blurred vision, which was diagnosed as a bilateral cataract."
] | [] | [
"He was delivered following a normal term pregnancy with normal birthweight and height."
] | [] | [
"31‐year‐old"
] | [
"of five"
] | [
"diagnosis of CTX ."
] | [] |
10126670 | {'Case Presentation': 'A 17-year-old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents no... | [
"his weight was 54 kg ( 11.70 percentile ), height was 158 cm ( 1.07 percentile ), and head circumference was 56 cm"
] | [
"diarrhea and jaundice"
] | [
"A 17 - year - old intellectually disabled boy was admitted to our neurology clinic due to an abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs. His symptoms had begun when he was 4 years old and worsened until his parents noted and brough... | [
"intellectually disabled",
"abnormality in his hand and difficulty in walking. He had a feeling of fear and trembling of his legs when climbing the stairs",
"development was normal",
"ataxia, dysarthria, and spastic paraparesis with pyramidal signs more prominent on the right lower extremity",
"peripheral n... | [
"Laboratory tests showed a normal cholesterol level in the serum ( 162 mg / dL ) and a normal total serum bile acid level ( 10 µmol / L )",
"Brain magnetic resonance imaging ( MRI ) demonstrated diffuse and focal cerebral and cerebellar white matter abnormalities",
"The genetic study was performed by the next -... | [] | [] | [] | [] | [
"car accident that caused a fracture in his skull",
"no sign of palpable xanthoma in any of his tendons even in Achilles tendon. In the examination of his right hand, the fourth and fifth interphalangeal joints were flexed, and the third and fifth metacarpophalangeal joints were extended, which was found to be th... | [
"bilateral cataracts",
"visual impairment"
] | [] | [
"born at term after a normal pregnancy"
] | [] | [
"17 - year - old"
] | [
"infancy"
] | [
"our patient was diagnosed with CTX and a mutation on COG8 gene"
] | [
"In due course , we started CDCA 810 mg daily ( 15 mg / kg / day ) ."
] |
10701218 | {'Chief complaints': 'A 33-year-old woman was admitted to the psychiatric acute ward with the following symptoms: delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability.', 'Personal and family history': 'There was no family history of psychiatric diseases.', 'CASE SUMMARY': 'A 3... | [] | [] | [
"A 33 - year - old woman was admitted to the psychiatric acute ward with the following symptoms : delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability. There was no family history of psychiatric diseases",
"At age 18, she underwent cataract surgery, and at age 26, she un... | [
"was admitted to the psychiatric acute ward with the following symptoms : delusions of persecution, auditory hallucination, impulsive behavior, and emotional instability. ',",
"admitted to the psychiatric ward for presentation of delusions, hallucinations, and behavioral disturbance is reported.",
"cerebellar s... | [
"total biliary acid returned to normal levels",
"Brain magnetic resonance imaging ( MRI ) revealed symmetrical patchy abnormal signals in the dentate nuclei and deep medulla of the bilateral cerebellar hemispheres. These signals exhibited a slight decrease in signal intensity on T1 - weighted images ( T1WI ) ( Fi... | [] | [] | [] | [] | [
"Achilles tendon xanthoma",
"normal muscle tone in the extremities, grade 5 muscle strength",
"Left - ankle - joint MRI showed that the inhomogeneous area had a considerable local thickening of the left Achilles tendon. The area displayed clear boundaries measuring approximately 6.6 cm × 1.2 cm and exhibited a ... | [
"cataract",
"cataract"
] | [] | [] | [] | [
"33 - year - old",
"33 - year - old"
] | [] | [
"the patient ’s history of CTX was identified",
"On the basis of these findings , the patient was ultimately diagnosed with CTX"
] | [
"prescribed chenodeoxycholic acid ( 750 mg / d )"
] |
10040992 | {'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pa... | [] | [] | [
"6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week"
] | [
"headache",
"no history of breathlessness, chest pain, palpitations, claudicating pain, or neurological deficits"
] | [
"2D - echo and electrocardiogram were investigated to check for cardiac involvement but were normal",
"A skin biopsy was performed from the neck, which showed an unremarkable epidermis. Degenerate basophilic collagen bundles were noted in the mid - dermis and lower dermis with intervening sclerotic areas that wer... | [
"no history of breathlessness, chest pain, palpitations, claudicating pain",
"2D - echo and electrocardiogram were investigated to check for cardiac involvement but were normal."
] | [] | [] | [
"no history of breathlessness, chest pain"
] | [] | [
"blurring of vision, photophobia",
"Fundus examination of both eyes showed dark brownish - red, irregular streaks surrounding and extending radially from the optic disc, suggestive of angioid streaks"
] | [
"6 year history of increased laxity of the skin over the neck, thighs, and abdomen",
"prominent skin folds, skin laxity, and wrinkles were noted over the right side of the neck, abdominal folds, thighs, and groin. A single, skin - colored papule of a size of 2 mm was present over the right lower lid, near the med... | [] | [] | [
"38 - year - old"
] | [] | [
"Based on the clinical and histopathological findings , a diagnosis of PXE was made ."
] | [] |
10542771 | {'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressu... | [
"blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg ( 75th-90th centile ) and his height measured 138 cm ( 50th centile )"
] | [] | [
"history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4 - 5 years"
] | [
"restlessness, anger, and dizziness"
] | [
"The patient presented to our department for ultrasonography of the inguinoscrotal region. Bilateral testis was normal in size ( right and left testicular volume – 2.9 mL and 2.8 mL respectively ) with multiple well - defined round to oval hetero - echoic nodules with calcific foci within and color Doppler showed... | [
"palpitation"
] | [
"Tanner staging was done which was stage 3 for genitalia ( testis length 3.5 cm, penile length 10 cm ) and stage 3 for pubic hair."
] | [
"bilateral scrotal enlargement",
"bilateral scrotal swelling with normal - appearing skin, and bilateral testes were firm on palpation. No localized rise in temperature or tenderness was noted. Tanner staging was done which was stage 3 for genitalia ( testis length 3.5 cm, penile length 10 cm ) and stage 3 for pu... | [] | [] | [] | [
"Generalized skin hyperpigmentation was present"
] | [] | [] | [
"11 - year - old"
] | [] | [
"these findings point towards a diagnosis of congenital adrenal hyperplasia"
] | [
"The patient is currently undergoing treatment with hydrocortisone and is on regular follow - up . The 3 - month follow - up revealed clinical improvement with a reduction in testis size and decreased ACTH levels , indicating positive progress ."
] |
10600359 | {'CASE REPORT': 'We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to th... | [] | [
"recurring episodes of intense abdominal pain",
"uncontrollable vomiting"
] | [
"We present the case of a 28‐year‐old Mexican woman who came to our clinic because she had been experiencing recurring episodes of intense abdominal pain, weakness in her upper and lower extremities, uncontrollable vomiting, and insomnia since the age of 17. These symptoms required frequent visits to the emergency ... | [
"weakness in her upper and lower extremities",
"insomnia",
"paralysis"
] | [
"episode of elevated urine PBG during a crisis",
"elevated urine PBG was even detected during asymptomatic periods.",
"This analysis revealed a heterozygous state mutation, c.457C > T ( p. Q153, exon 9, HMBS gene"
] | [] | [] | [] | [] | [
"weakness in her upper and lower extremities"
] | [] | [] | [] | [] | [
"28‐year‐old"
] | [
"age of 17"
] | [
"confirmed the diagnosis of AIP"
] | [
"Treatment with hematin derivatives ( Normosang ® , Panhematin ® ) was initiated , resulting in partial improvement",
"At the age of 38 , she enrolled in a clinical trial for Givosiran , an RNA interference therapeutic targeting ALAS1 mRNA . Remarkably , she exhibited a notable response to the treatment and conti... |
10589034 | {'2. Case presentation': 'A 26-year-old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications (OCPS), presented with a 5-day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other ... | [
"systolic blood pressure 180 mm Hg"
] | [
"worsening abdominal pain",
"abdominal pain was severe, generalized, non - radiating and associated with constipation"
] | [
"A 26 - year - old female with past medical history of ruptured ovarian cyst, currently on oral contraceptive medications ( OCPS ), presented with a 5 - day history of worsening abdominal pain. Prior to presenting to our hospital, she had sought medical attention on multiple occasions at several other facilities.",... | [
"tingling sensation in her hands",
"seizure and postictal confusion",
"Magnetic Resonance ( MR ) imaging showed subtle symmetric parenchymal edema in the occipital and posterior parietal lobes, suggestive of PRES"
] | [
"Multiple pelvic examinations and 3 computerized tomography ( CT ) imaging studies were unremarkable. A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen",
"initial laboratory studies showed hypokalemia ( potassium 3.4 mmol / L, reference range 3.5–5.1 mmol / L ), ... | [
"significant hypertension ( systolic blood pressure 180 mm Hg )"
] | [
"serum sodium decreased abruptly from 136 mmol / L to 127 mmol / L ( range : 135–145 mmol / L ). Serum osmolality was low at 271 mOsm / kg ( range : 280–300mOsm / kg ), urine sodium was markedly elevated at 168 mmol / L and urinalysis was remarkable for increased urine specific gravity ( > 1.042 ).",
"Syndrome of... | [
"ruptured ovarian cyst,",
"A bedside transvaginal ultrasound showed an ovarian cyst, but no other concerning findings were seen",
"was in the luteal phase of her menstrual cycle",
"hypokalemia ( potassium 3.4 mmol / L, reference range 3.5–5.1 mmol / L ), and an elevated creatinine 1.14 mg / dl ( baseline arou... | [] | [] | [
"acute visual disturbances"
] | [] | [] | [] | [
"26 - year - old"
] | [] | [
"acute porphyria"
] | [
"Hemin treatment was unavailable at our facility"
] |
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