Congenital chloride diarrhea associated with sensorineural deafness, and epilepsy in a Kuwaiti girl

ABSTRACT

Congenital chloride diarrhea [CCD] is a rare autosomal recessive disease. It is characterized by persistent, lifelong, watery diarrhea with high fecal chloride concentration, hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. In this report, we describe a nine year old Kuwaiti girl who was diagnosed to have CCD at six months of age, sensorineural deafness at 18 months of age, and epilepsy at 30 months of age. To the best of our knowledge, this appears to be a unique combination that has not been previously reported