A new article published in BMJ Case Reports reported that congenital chloride diarrhea is a rare cause of diarrheaamong infants and its global frequency is low. It is an autosomal recessive condition which is more prevalent in Poland, Finland, Saudi Arabia and Kuwait,and it is rarely reported in Pakistan.

The authors presented the case of a 7.5-month-old male infant who hasdiarrhea since the neonatal period. The boy had consanguineous parents. On examination, hehad distended abdomen, hypotonia and hyporeflexia. Investigations revealed hypochloremic hypokalemic metabolic alkalosis. Urinary electrolytes were normal while stool electrolytes revealed increased stool chloride excretion, which confirmed the diagnosis of congenital chloride diarrhea.

The baby 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. The patient’s symptoms subsided and he began to gain weight during his hospital admission.

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