Congenital cataract and congenital chloride diarrhoea—a unique combination and antenatal diagnosis

Summary

Congenital chloride diarrhoea (CCD) is a serious inherited defect of intestinal electrolyte absorption transmitted in an autosomal recessive way. The molecular pathology involves an epithelial Cl(-)/HCO(3)(-) exchanger protein, encoded by the solute carrier family 26 member 3 gene (SLC26A3) and known DRA (down regulated in adenomas) in the distal ileum and colon. Polyhydramnios, premature birth, ileus without meconium passage, hypochloremia, and hyponatremia are typical features of CCD in the neonate followed by chronic metabolic alkalosis, hypokalemia, hypochloremia, retarded growth and renal impairment in older children and adults if the disease is not adequately treated. Antenatal diagnosis if made on the basis of findings on ultrasonography—a non-invasive diagnostic test—can help in early management of the disorder immediately after birth and, thus, prevent the sequelae. We present an interesting case of CCD diagnosed antenatally and found to have congenital cataract, which is a unique occurrence not reported in literature so far.