Background Congenital chloride diarrhea (CCD), a rare autosomal recessive disorder, is characterized by sustained watery diarrhea (due to defect of active Chloride/HCO3 exchange in the ileum and colon) with high fecal chloride. The estimated incidence of CCD was 1 in 14000 in Kuwait reported in 1989. Aim of our study was to spotlight the common presentation of infants with CCD which appears not to be uncommon disorder in Kuwait for early management and prevention of complications.

Subjects and methods Reviewing the inpatient database of Pediatric department of Al-Adan Hospital, Kuwait for patients who were admitted as chronic diarrhea in the first year of life, 12 patients diagnosed as CCD (7 females and 5 males). The diagnosis of CCD was based on antenatal and early infantile presentation and confirmed by laboratory finding of excess chloride loss in stool and low serum chloride level.

Results All 12 patients were born to consanguineous parents, had antenatal history of IUGR, polyhydramnios and distended hypoechoic fetal bowel and presented with abdominal distension, hypotonia and muscle wasting. Whereas, 10 patients (90%) were delivered prematurely, 8 patients (66.6%) had maternal hypertension, 9 patients (75%) had absence of normal meconium at birth. Our patients showed significant decrease in serum sodium, potassium, chloride & urine chloride compared with the average for age.

Conclusions High index of suspicious and awareness should be considered for early diagnosis of CCD in this population especially in the presence of consanguineous marriage.