Congenital chloride diarrhea (CCD) is a common metabolic disorder in S
audi children with an incidence of 1 in 5,500. The present retrospecti
ve study from Saudi Arabia, over 7.5 years, presents the clinical, bio
chemical, and treatment details in 10 children with CCD. The perinatal
characteristics of maternal polyhydramnios, prematurity, abdominal di
stention, and diarrhea were seen in 100% and hyperbilirubinemia in 90%
of patients. Hypokalemic hypochloremic metabolic alkalosis was a feat
ure in 50% of the children and acidosis in both neonates. Fecal chlori
de greater than 100 mmol/L in 100% and fecal chloride greater than the
sum of fecal sodium and potassium were found in 55% of patients. The
mean age at the time of diagnosis was 10 months and the mean duration
of follow-up for the group was 38 months (range 2-89 months). Eight of
the nine patients treated with continuous oral electrolyte solution d
emonstrated ''catch-up'' physical growth. Mental subnormality, growth
retardation, and renal impairment were seen in one patient who failed
to comply with the treatment. Cerebral palsy in another child was due
to neonatal intraventricular hemorrhage.