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Long-term follow up of a case of severe congenital chloride diarrhoea
D Vermeylen1, S Godart, M Moretto
1Paediatric Department, Free University of Brussels, Belgium.
Insights
Congenital chloride diarrhoea (CCD) is a rare condition diagnosed by watery stools with specific ionic content. Early surgical intervention and nutritional support are crucial for managing this condition in neonates.
Area of Science:
- Pediatrics
- Gastroenterology
- Medical Genetics
Background:
- Congenital chloride diarrhoea (CCD) is a rare inherited disorder affecting intestinal ion transport.
- Early diagnosis and management are critical for preventing severe complications in neonates.
Purpose of the Study:
- To report a case of congenital chloride diarrhoea (CCD) in a neonate.
- To describe the diagnostic process, clinical presentation, and management strategies.
- To evaluate the long-term outcomes of a patient with CCD.
Main Methods:
- Diagnosis based on clinical presentation (watery stools) and ionic stool composition analysis.
- Surgical intervention including laparotomy and transverse colostomy for abdominal distension.
- Nutritional management with total parenteral nutrition followed by a semi-elemental diet.
Main Results:
- The neonate was diagnosed with CCD on day 5 of life.
- Surgical interventions were performed due to abdominal distension, with colostomy closure at 16 months.
- The patient exhibited normal growth, psychomotor development, and renal function at 6 years of age.
Conclusions:
- Congenital chloride diarrhoea requires prompt diagnosis and a multidisciplinary approach involving surgery and nutrition.
- Effective management can lead to favorable long-term outcomes, including normal development and organ function.
- The case highlights the importance of established criteria for therapeutic evaluation in CCD management.
Abstract:
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.