Clinical Reasoning: Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia.

Chadha, Deepak; Viswanathan, Lakshminarayanapuram Gopal; Santhoshkumar, Rashmi; Goyal, Aditi; Seshagiri, Doniparthi Venkata; Chickabasaviah, Yasha T; Nagappa, Madhu · Neurology · 2025

case_report · Level V

Where this comes from

Abstract

A 16-year-old adolescent girl presented with progressive walking imbalance, uncoordination of her limbs, impaired proprioceptive sensation distal to her wrists and ankles, and sensorineural hearing loss. Her evaluation revealed diffuse cerebellar atrophy, a demyelinating neuropathy, and hypergonadotropic hypogonadism. In this article, we present a systematic approach to a patient with early-onset ataxia, cerebellar atrophy, and demyelinating neuropathy.

Medical subject headings