家族性感觉运动性脱髓鞘多发性神经病伴传导阻滞。

Familial, demyelinating sensory and motor polyneuropathy with conduction block.

机构信息

Neuromuscular Division, Department of Neurology, Beth Israel Medical Center, Albert Einstein College of Medicine, Phillips Ambulatory Care Center, 10 Union Square East, Suite 5D, New York, New York 10003, USA.

出版信息

Muscle Nerve. 2010 Apr;41(4):558-62. doi: 10.1002/mus.21558.

DOI:10.1002/mus.21558

PMID:19941344

Abstract

Both multifocal, demyelinating features and prednisone responsiveness are rare in Charcot-Marie-Tooth (CMT) disease. We report a mother and son with a prednisone-responsive, multifocal, demyelinating, predominantly sensory polyneuropathy that was associated with an isoleucine92valine polymorphism of lipopolysaccharide-induced TNF-alpha factor (LITAF). The mother had a multifocal, acquired, demyelinating sensory and motor polyneuropathy (MADSAM)-like presentation. The son developed left peroneal neuropathy during acute Lyme disease with a subsequent relapsing, MADSAM-like illness, despite antibiotic treatment. Both shared prednisone responsiveness and multifocal, demyelinating features electrophysiologically. MADSAM may be familial (FaDSAM) and respond to prednisone.

摘要

多发性、脱髓鞘表现以及泼尼松反应在遗传性运动感觉神经病（Charcot-Marie-Tooth，CMT）中罕见。我们报告了一例母子病例，其患有泼尼松反应性、多发性、脱髓鞘、以感觉为主的多发性神经病，与脂多糖诱导的肿瘤坏死因子-α因子（lipopolysaccharide-induced TNF-alpha factor，LITAF）的异亮氨酸 92 缬氨酸多态性相关。母亲表现为多发性获得性脱髓鞘感觉运动神经病（multifocal acquired demyelinating sensory and motor neuropathy，MADSAM）样表现。儿子在急性莱姆病时出现左侧腓总神经病，随后出现复发性、MADSAM 样疾病，尽管进行了抗生素治疗。两人均具有泼尼松反应性和多发性、脱髓鞘电生理特征。MADSAM 可能为家族性（familial，Fa），并对泼尼松有反应。