Congenital chloride-losing diarrhea in Saudi children

ABSTRACT

Four Saudi patients with congenital chloride-losing diarrhea [CCD] are described. The disease was characterized by polyhydramnios, chronic diarrhea, abdominal distention, growth failure, and delay in diagnosis. In only one patient, the brother of a known case, was the diagnosis made at birth. The first patient had laparotomy at the age of five days for suspected intestinal obstruction, and CCD was not diagnosed until seven weeks of age. The second patient had chronic diarrhea since birth, but the correct diagnosis was delayed until 11 months of age when he was seen because of chronic diarrhea and severe marasmus. The third patient was a sibling of the second patient, and diagnosis was made on the first day of life. The fourth patients had symptoms since birth, and was kept in her local hospital for 9 months because of electrolyte abnormalities, but correct diagnosis was not made until she was referred to another hospital. The possibility of CCD should be considered in any infant with persistent watery stools beginning in the first days of life, particularly if there was polyhydramnios during pregnancy