Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic genetic disease resulting from defects in the bile acid metabolism. This report describes cases diagnosed with CTX at an exceptionally early age - 4 months (Patient #2 and #3) - making them the youngest reported cases to date. All three presented with intractable congenital diarrhea, a hallmark manifestation of the disease.