Charcot-Marie-Tooth 2 型疾病与复发性缓解型多发性硬化症并存

Q4 Medicine
Ana João Marques, Andreia Matas, Andreia Veiga, João Paulo Gabriel
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引用次数: 0

摘要

一名患有 CMT 2 型(MFN2 基因突变)的 37 岁女性出现了亚急性脑干综合征(左侧核内性眼球震颤、面瘫和共济失调)。脑磁共振成像显示其皮质下、脑室周围和皮质下病变,是典型的多发性硬化症(脑脊液寡克隆带阳性,抗喹诺酮 4 和抗 MOG 抗体阴性)。患者接受了纳他珠单抗治疗,达到了NEDA-3(无疾病活动迹象)(随访3年)。MFN2基因突变患者可能会出现视神经萎缩和模仿多发性硬化症的脑室周围白质T2信号改变。尽管如此,这可能是首例证实这两种疾病存在共性的报告。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Charcot-Marie-Tooth Type 2 Disease and Relapsing Remitting Multiple Sclerosis Coexistence
Multiple sclerosis (MS) and Charcot-Marie-Tooth disease (CMT) association has been reported, namely in CMTX and CMT1A. A 37-year-old woman with CMT type 2 (MFN2 mutation) developed subacute brainstem syndrome (left internuclear ophthalmoplegia, facial palsy and ataxia). Brain magnetic resonance imaging revealed infratentorial, periventricular and subcortical lesions, typical of MS (positive CSF oligoclonal bands, negative anti-aquaporin 4 and anti-MOG antibodies). Patient underwent natalizumab, reaching NEDA-3 – no evidence of disease activity - (3-years follow-up). Patients with MFN2 mutations may disclose optic atrophy and periventricular white matter T2 signal changes mimicking MS. Notwithstanding, this is, probably, the first report of proven concomitance between both conditions.
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来源期刊
Sinapse
Sinapse Medicine-Neurology (clinical)
CiteScore
0.10
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0.00%
发文量
26
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