15-Month-old infant with failure to thrive, hepatomegaly, increased liver enzymes, hypoproteinemia, and seizures (original) (raw)
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American Journal of Medical Genetics, 1993
CLINICAL PRESENTATION History of the Present Illness A 12-week-old girl was admitted to a community hospital for failure to thrive. She had been vomiting intermittently since birth. The vomiting was reported to be projectile, and its frequency had increased somewhat in the 2 weeks prior to admission. Past Medical History The patient was the product of a normal term pregnancy. Maternal serology, including syphilis testing, was negative. She was born by uncomplicated vaginal delivery and had a birth weight of 2,780 g. The neonatal course was uneventful and no jaundice was noted. Routine neonatal screening tests, including those for PKU and cystic fibrosis (CF) [by measurement of immunoreactive trypsinogen (IRT)], were negative. She was initially breastfed for 2 weeks and then switched to bottle feeding with Isomil because of vomiting. The stools were said to be normal in appearance. A decrease in urine output was noted in the days before her initial admission. There was a history of diabetes in the mother's family. The patient had a healthy 6-year-old brother. On her initial admission, she was thought to have lost
An infant with chronic diarrhoea and failure to thrive
European Journal of Pediatrics, 2000
A 6-month-old male infant, born at term to consanguineous parents after an uneventful pregnancy, had been passing since birth 8 to 10 daily stools, soft or liquid, yellowish, frothy, without blood or mucous. He was initially breast-fed and was later supplemented by formula feeds. No improvement resulted from several changes in formula, including soya bean products, and weight gain was very poor. At the age of 3 months, he was treated for iron de®ciency anemia (Hb 9 g/dl, MCV 73.3¯, RDW 24.4, microcytosis and acanthocytosis). Bowing of the tibias at 4 months of age led to the diagnosis of rickets for which he received vitamin D therapy. He had a healthy sibling. On examination, the child was marasmic, pale,with a marked rosary rickets at the costochondral junction and minimal scrotal oedema. Weight was 4.5 kg, height 64 cm, head circumference 39.5 cm, temperature 37.2°C, respiratory rate 35/min, pulse 150/min, blood pressure 90/ 65 mmHg. The rest of the examination was unremarkable. Stools were negative for reducing substances, bacteria and parasites, pH was 6.0, fat content was 5 g/24 h (over 50% of total solids). Urinalysis and culture were normal. Haemoglobin was 11.3 g/dl, MCV 61.5¯, RDW 21, leucocytes 22.1´10 9 /l, 20% neutrophils, 80% lymphocytes, platelets 655´10 9 /l, with microcytosis, polychromasia and acanthocytosis. Serum immunoglobulin levels, electrolytes, creatinine, glucose, calcium, magnesium, bilirubin, trans-aminases, thyrotropin and blood urea nitrogen were normal for age. Serum alkaline phosphatase level was 781 U/l, prothromin time 15.6 s (control 12 s), cholesterol 24 mg/dl, triglycerides 9 mg/dl, zinc 75 lg/dl, vitamin E 0.8 mg/dl (normal 3±9 mg/ dl), b-carotene 5 lg/dl (normal 10± 85 lg/dl), vitamin A 30 lg/dl (normal 30±80 lg/dl), 25 OH vitamin D2 was <1 ng/ml (normal 14±60 ng/ml) and 25 OH vitamin D3 16 pg/ml (normal 25±45 pg/ml). Capillary blood gases revealed a pH of 7.36, pCO 2 28 mmHg, base de®cit A8.
Case 2: Hyponatremia and hyperkalemia in a four-week-old boy
Paediatrics & child health, 2008
A 20-day-old female infant was transferred from a peripheral hospital with progressive vomiting and weight loss. The infant was born to a 31-year-old primiparous mother at 37 weeks' gestation by spontaneous vaginal delivery. The pregnancy was uncomplicated, apart from a positive screen for group B streptococcus, which was adequately treated during labour. The infant's birth weight was approximately 3 kg. Vomiting began at seven days of age, when nystatin was started for treatment of oral thrush. The vomiting progressively became more frequent and projectile in nature. By the time of admission, at three weeks of age, the infant had projectile nonbilious vomiting that occurred 1 h to 2 h after every attempted feeding. She appeared hungry immediately after vomiting. The infant had been offered two different formulas (Enfamil [Mead Johnson Nutritionals, Ottawa, Ontario] and Goodstart [Nestlé Canada]), and minimal expressed breastmilk by bottle since birth. The formula changes did not result in symptomatic improvement. She was offered approximately 60 mL of feed every 2 h to 3 h. Her bowel movements were normal, apart from a few loose, nonbloody stools on the day of admission. Her parents reported that there had been four to five wet diapers per day before admission. The infant was otherwise healthy, with no fever, rash or systemic symptoms. Both parents were healthy and of Italian descent. Family history was not contributory. The infant's admission weight was 2180 g (25% less than her birth weight), with the clinical appearance of significant dehydration and malnutrition (little subcutaneous fat and muscle wasting). She was afebrile, with stable vital signs for her age, including a pulse rate of 120 beats/min after initial fluid resuscitation of 20 mL/kg of 0.9% saline followed by isotonic fluid at a maintenance rate. Her abdomen was soft, scaphoid and nontender, with no organomegaly. There were no palpable masses, including no palpable 'olive' when the baby was quiet. The remainder of the examination was normal, apart from slight oral thrush. Initial laboratory investigations revealed severe metabolic alkalosis with venous pH 7.64, PCO 2 50 mmHg, bicarbonate 54 mmol/L and base excess +26 mmol/L. Electrolytes were abnormal with serum sodium 119 mmol/L, potassium 4.7 mmol/L, chloride lower than 50 mmol/L and glucose 10.9 mmol/L. Both urea and creatinine concentrations were significantly elevated (blood urea nitrogen 22.7 mmol/L and creatinine 261 μmol/L). The infant's complete blood count was normal, apart from thrombocytosis (767×10 9 /L). Her urine pH was greater than 9.0 and specific gravity was 1.010 g/L; she had normal microscopy, except for 2+ protein. Her abdominal ultrasound revealed stomach contents passing through a nonhypertrophied pylorus that was seen to open and close normally. The infant's abdominal radiograph showed a small amount of gas in a single, mildly prominent structure in the mid-abdomen and a paucity of bowel gas in the remainder of the abdomen. An additional investigation revealed the diagnosis.