Clinical presentation

A 15-month-old boy presented with a 6-month history of progressive, diffuse abdominal distension; generalised body swelling; and passage of large-volume, bulky, semisolid stools. There was no history of jaundice, clay-coloured stools, haematemesis, melaena, constipation, hypoglycaemia, seizure, fever, poor feeding, abnormal odour from urine or body, recurrent infections or failure to thrive. He had been born by twin vaginal delivery and weighed 3 kg at birth. His non-identical twin brother was similarly affected. Both had a mild motor delay with a developmental age of 9–10 months.

On physical examination, his weight was 8.2 kg (−2.16 z (standard deviation)) and his head circumference was 44.2 cm (between −1 and −2 z). He had mild pallor, wide anterior fontanel (4×4 cm), biparietal prominence, hypotonia, normal deep tendon reflexes and normal bilateral fundi. His abdomen was diffusely distended with prominent, non-dilated, anterior abdominal veins; a reducible, small umbilical hernia; non-tender firm hepatomegaly (3 cm below the right coastal margin, regular and sharp margin); and a firm spleen (7 cm below the left costal margin, regular and sharp margin). There was no shifting dullness or fluid thrill.

Laboratory investigations

Biochemical and haematological investigations are presented in table 1. Radiographs showed rickets and the absence of dysostosis complex (figure 1). His twin brother had features of developmental delay, hepatosplenomegaly, oesophageal varices, rickets and a normoblastic bone marrow. Copper studies could not be done in the index case as he expired. However, the sibling’s analysis showed elevated random urine copper of 2433 µmol/L (2–204 µmol/L), elevated copper/creatine ratio of 434 µg/g (10–45 µg/g) and a normal serum ceruloplasmin of 310 mg/L (200–400 mg/L). The index patient succumbed to hospital-acquired sepsis and acute respiratory distress syndrome on day 8 of the hospital stay, and a complete autopsy was performed. His brother remained well during the hospital stay. The family was advised to avoid the use of copper …