Anti-Ma2 Encephalitis as a Treatable Cause of Narcolepsy Type 1: A Case Report

抗Ma2脑炎作为1型发作性睡病的一种可治疗病因:病例报告

阅读:3

Abstract

BACKGROUND Secondary narcolepsy type 1 (NT1) is an uncommon but increasingly recognized disorder, often associated with autoimmune etiologies that disrupt hypothalamic hypocretin/orexin-producing neurons. Anti-Ma2 encephalitis, a paraneoplastic syndrome commonly linked to testicular tumors, typically involves the limbic system and diencephalon, leading to diverse neuropsychiatric manifestations. While hypersomnia has been reported in a subset of these patients, full syndromic NT1 - characterized by cataplexy, hypocretin deficiency, and objective sleep study abnormalities - remains underrecognized as a presentation. This gap in awareness can delay diagnosis, particularly when sleep-related symptoms predominate. Identifying autoimmune triggers in cases of rapidly progressive hypersomnia is thus critical for guiding appropriate treatment. CASE REPORT A 60-year-old man developed subacute severe daytime sleepiness, cataplexy, episodic limb weakness, and cognitive decline. Polysomnography indicated mild sleep-disordered breathing. The MSLT revealed a mean sleep latency of 6.2 min with 3 SOREMPs. CSF hypocretin-1 was markedly low (22.836 pg/mL). Anti-Ma2 antibodies were positive in both serum and CSF. Neuroimaging showed periventricular white matter changes on MRI and medial temporal hypermetabolism on PET-CT. Immunotherapy with corticosteroids and IVIG resulted in partial neurological improvement and significant reduction in sleepiness. CONCLUSIONS Anti-Ma2 encephalitis is a treatable cause of secondary NT1. Immunotherapy can substantially improve hypersomnolence, although adjunctive symptomatic treatment may be necessary for residual symptoms. Autoimmune evaluation - including antibody panels and hypocretin testing - is crucial in cases of acute/subacute hypersomnia with atypical features to enable timely diagnosis and treatment.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。