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

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.