An infant with chronic diarrhoea and failure to thrive (original) (raw)

2000, European Journal of Pediatrics

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.