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Case Reports
. 2019 Dec 10;12(12):e229012.
doi: 10.1136/bcr-2018-229012.

Congenital chloride diarrhoea

Aisha Sajid  1 , Sohaib Riaz  2 , Aqsa Riaz  2 , Bisma Safdar  2
Affiliations
Case Reports

Congenital chloride diarrhoea

Aisha Sajid et al. BMJ Case Rep. .

Abstract

Congenital chloride diarrhoea is one of the rare causes of diarrhoea during infancy and it is infrequently reported throughout the world. It is an autosomal recessive condition which is more prevalent in Poland, Finland, Saudi Arabia and Kuwait while rarely reported in Pakistan. Our patient was 7.5-month-old baby boy who presented with diarrhoea since neonatal period. He had consanguineous parents. On examination, baby had distended abdomen, hypotonia and hyporeflexia. Investigations revealed hypochloremic hypokalemic metabolic alkalosis. Urinary electrolytes were normal. Stool electrolytes revealed increased stool chloride excretion that confirmed our diagnosis of congenital chloride diarrhoea. Patient was treated with intravenous fluids and electrolyte replacement, followed by oral potassium and sodium replacement. He was also started on butyrate, cholestyramine and proton-pump inhibitors. He started gaining weight during his hospital admission and is being followed up in clinic.

Keywords: gastrointestinal system; paediatrics (drugs and medicines).

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Conflict of interest statement

Competing interests: None declared.

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