Congenital sodium diarrhoea in an Indian girl

We report the case of a newborn Indian girl with congenital sodium diarrhoea (CSD) who presented typically in utero, in whom diagnosis was made from markedly raised stool sodium in the presence of an alkaline stool. Treatment with sodium citrate normalised her metabolic and electrolyte status but resulted in transient uremia necessitating supplementation with sodium bicarbonate instead. She died at 11 weeks old following re-admission in a moribund state with grossly increased abdominal distension. Her fatal outcome in infancy suggests that CSD has a wide spectrum of clinical severity.