FP250

CATARACT IN CEREBROTENDINOUS XANTHOMATOSIS: A CASE REPORT

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused deficiency of the mitochondrial enzyme, sterol 27-hydroxylase. The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodeoxycholic acid. Deposits of cholesterol and a related compound called cholestanol accumulate in the nerve cells and membranes potentially causing damage to the brain, spinal cord, tendons and cataracts, Affected individuals can experience diarrhea and cataracts in childhood and may develop benign, fatty tumors (xanthomas) of the tendons during adolescence. If untreated, CTX can lead to progressive neurologic problems such as seizures, cognitive impairment, and difficulties with coordination and balance (ataxia). Coronary heart disease is common. Some individuals with the later-onset symptoms of CTX experience cholestatic jaundice during infancy. We report a 14-year-old boy who presented with Juvenile cataract in both eyes.