Reversible area postrema syndrome in a patient with GJB1 mutation mimicking neuromyelitis optica spectrum disorder

Abstract

Background:

Area postrema syndrome (APS) is a core feature of neuromyelitis optica spectrum disorder (NMOSD). Charcot–Marie–Tooth disease type 1X (CMT1X), caused by gap junction protein beta-1 (GJB1) mutations, can rarely involve the central nervous system (CNS).

Objectives:

To report a case of CMT1X presenting with APS mimicking NMOSD.

Methods:

Clinical, electrophysiological, radiological, and genetic evaluations were performed.

Results:

A 43-year-old woman experienced intractable hiccups, nausea, and a dorsal medullary lesion. Genetic testing revealed a pathogenic GJB1 p.Arg22Gln variant. The lesion resolved, and she remained relapse-free without maintenance immunotherapy.

Conclusion:

GJB1-related disorders should be considered in patients with episodic CNS symptoms, particularly when accompanied by features of hereditary neuropathy, to avoid misdiagnosis.

Keywords

Charcot–Marie–Tooth Disease stroke-like episode demyelinating disease neuromyelitis optica spectrum disorder connexins

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