Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease - PubMed
3 hours ago
- #CMTX1
- #stroke-like episodes
- #high-altitude hypoxia
- X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a rare inherited neuropathy caused by GJB1 gene mutations.
- A 37-year-old man experienced recurrent stroke-like episodes (numbness, limb weakness, dysarthria) triggered by high-altitude exposure.
- Episodes consistently occurred within 3 days after descending from high altitudes (8,500–13,000 feet).
- Diagnosis confirmed via neurologic exam, brain MRI, and genetic testing.
- High-altitude hypoxia may trigger reversible white matter lesions in CMTX1 patients.
- GJB1 gene testing is crucial for young patients with stroke-like symptoms and peripheral neuropathy.