Multiple sclerosis (Houndmills, Basingstoke, England) · 2026
Reversible area postrema syndrome in a patient with GJB1 mutation mimicking neuromyelitis optica spectrum disorder.
СтатьяНазвание и аннотация: Перевод в очереди
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Cheng Po-Chia, Sun Yuan-Ting
Аннотация
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.
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.