PDF(Pubmed)
Abstract：
UNASSIGNED: Peripheric nerve hyperexcitability (PNH) syndromes are a rare, heterogenous group of diseases characterized by continuous muscle overactivity due to spontaneous discharges of the lower motor neurons.
UNASSIGNED: Here we report four patients presented with painful cramps, generalized muscle twitches and lower extremity weakness. All patients had evidence of neuropathy and neuromyotonic discharges on electrodiagnostic studies. Screening for a broad panel of anti-neuronal antibodies proved uncharacterized neuropil antibodies in one patient. Despite extensive serologic and genetic investigations, no definitive etiology was found in our cohort. One out of three patients responded well to immunotherapy. No other diseases including malignancy appeared for 1.5-3 years follow-up duration.
UNASSIGNED: Our case series indicate a putatively high prevalence of neuropathy in PNH and emphasize anti-neuronal antibody positivity and early diagnosis as potential favorable prognostic factors.
UNASSIGNED: Here we report four patients presented with painful cramps, generalized muscle twitches and lower extremity weakness. All patients had evidence of neuropathy and neuromyotonic discharges on electrodiagnostic studies. Screening for a broad panel of anti-neuronal antibodies proved uncharacterized neuropil antibodies in one patient. Despite extensive serologic and genetic investigations, no definitive etiology was found in our cohort. One out of three patients responded well to immunotherapy. No other diseases including malignancy appeared for 1.5-3 years follow-up duration.
UNASSIGNED: Our case series indicate a putatively high prevalence of neuropathy in PNH and emphasize anti-neuronal antibody positivity and early diagnosis as potential favorable prognostic factors.
摘要：
■周围神经兴奋过度（PNH）综合征是一种罕见的，异质性疾病组，其特征是由于下运动神经元的自发放电而导致的持续肌肉过度活动。
■这里我们报告了四名患者出现疼痛性痉挛，全身肌肉抽搐和下肢无力。在电诊断研究中，所有患者都有神经病变和神经肌强直放电的证据。筛选大量抗神经元抗体证明了一名患者未表征的Neuropil抗体。尽管进行了广泛的血清学和遗传学研究，在我们的队列中没有发现明确的病因.三分之一的患者对免疫疗法反应良好。随访1.5-3年，未出现包括恶性肿瘤在内的其他疾病。
■我们的病例系列表明PNH中神经病的患病率较高，并强调抗神经元抗体阳性和早期诊断是潜在的有利预后因素。
■这里我们报告了四名患者出现疼痛性痉挛，全身肌肉抽搐和下肢无力。在电诊断研究中，所有患者都有神经病变和神经肌强直放电的证据。筛选大量抗神经元抗体证明了一名患者未表征的Neuropil抗体。尽管进行了广泛的血清学和遗传学研究，在我们的队列中没有发现明确的病因.三分之一的患者对免疫疗法反应良好。随访1.5-3年，未出现包括恶性肿瘤在内的其他疾病。
■我们的病例系列表明PNH中神经病的患病率较高，并强调抗神经元抗体阳性和早期诊断是潜在的有利预后因素。
