# Juvenile Cataract and Chronic Diarrhea: A Single Etiology

## TL;DR

A young patient with chronic diarrhea and cataracts was diagnosed with a rare metabolic disorder, highlighting the importance of linking diverse symptoms to a single cause.

## Contribution

The paper presents a case emphasizing the need to consider a single underlying cause for multiple unrelated symptoms in young patients.

## Key findings

- Chronic diarrhea and bilateral cataracts in a young patient were linked to cerebrotendinous xanthomatosis.
- The case underscores the importance of recognizing rare metabolic disorders through diverse clinical signs.

## Abstract

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.