# Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease

## TL;DR

A man with X-linked Charcot-Marie-Tooth disease experienced stroke-like episodes triggered by high-altitude exposure, highlighting the need for GJB1 gene testing in similar cases.

## Contribution

This case report identifies high-altitude exposure as a novel trigger for stroke-like episodes in X-linked Charcot-Marie-Tooth disease.

## Key findings

- A 37-year-old man with X-linked CMTX1 experienced recurrent stroke-like episodes after high-altitude exposure.
- Neurological symptoms were consistently triggered within 3 days of descending to sea level after high-altitude travel.
- Genetic testing confirmed GJB1 mutations, emphasizing the importance of this test in diagnosing similar cases.

## Abstract

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a rare inherited neuropathy caused by mutations in the GJB1 gene, leading to progressive distal muscle weakness and atrophy. In this case study, a 37-year-old man presented with recurrent episodes of numbness involving the lips, right hand, and foot, followed by right-sided limb weakness and dysarthria four times over the past 20 years. Notably, the last three episodes were consistently triggered within 3 days after descent to sea level following exposure to high-altitude environments (8,500–10,000 feet, with transit above 13,000 feet). Based on the neurologic examination, brain magnetic resonance imaging (MRI), and genetic testing, the patient was diagnosed with X-linked Charcot-Marie-Tooth disease. This case underscores the importance of considering high-altitude exposure as a potential trigger and highlights the value of GJB1 testing in young patients presenting with acute stroke-like episodes and signs of peripheral neuropathy.