Juvenile Cataract and Chronic Diarrhea: A Single Etiology

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive metabolic disorder characterized by an abnormal bile acid synthesis pathway, resulting in cholesterol accumulation that can deposit in different tissues, causing a variety of clinical manifestations. We present the clinical case of a young male patient referred to Internal Medicine for investigation of chronic diarrhea, later diagnosed with bilateral cataracts - classic symptoms of CTX, which led to his diagnosis. The authors aim to emphasize the importance of considering a single etiology in young patients with various seemingly unrelated signs/symptoms.