Long-term follow up of a case of severe congenital chloride diarrhoea.

A patient with congenital chloride diarrhoea (CCD) is reported. The diagnosis on the 5th day of life was based on the watery stools with characteristic ionic composition. The neonate presented with abdominal distension necessitating laparotomy on day 1, followed by transverse colostomy on day 3, owing to persistent abdominal swelling. Total parenteral nutrition (from 1 to 3 months) followed by an enteral semi-elemental diet (from 3 to 5 months) was required to reduce the quantity of stools and to obtain a satisfactory nutritional state. The colostomy was closed at 16 months. Growth, psychomotor development and renal function are normal at 6 years. Criteria for therapeutic evaluation are discussed.