July 2025

CASE HISTORY

A 22-year-old male, born of nonconsanguineous parentage, presented with insidious onset, gradually progressive symmetrical upper limb and lower limb ataxia, dysarthria, and distal upper and lower limb weakness since the age of eight years. Saccadic intrusions were present, characterized by slow saccades and broken pursuits. His sibling and two maternal uncles were affected with similar complaints. Nerve conduction study showed bilateral symmetrical demyelinating polyneuropathy.

CASE CONTRIBUTED BY

Dr. Rakesh, Senior Resident

Dr. Smily Sharma, Assistant Professor

Dr Bejoy Thomas, Senior Grade Professor

Dr C Kesavadas, Senior Grade Professor and Head of the Department

Affiliation: Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India

What’s your Diagnosis?

Stay tuned.

Leave a Reply