Husson M, Goizet C, Rivera S, Lacombe D, Pedespan J M
Unité de neuropédiatrie, centre hospitalier universitaire Pellegrin, hôpital des enfants, place Amélie-Raba-Léon, 33076 Bordeaux cedex, France.
Arch Pediatr. 2004 Nov;11(11):1336-8. doi: 10.1016/j.arcped.2004.06.023.
Hereditary neuralgic amyotrophy is a rare disorder, characterized by recurrent attacks of pain in a brachial plexus distribution. We report the case of a 12-year-old boy with several attacks of pain and atrophy of the muscles of the shoulders. The age of onset of this disease is variable, most frequently in the second or third decade. Pediatric onsets, during the first decade are rare. The differences between the hereditary neuralgic amyotrophy and the sporadic Parsonage-Turner syndrome are painful recurrent episodes of weakness and similar familial cases. The analysis of several families has shown that hereditary neuralgic amyotrophy phenotype is heterogeneous and two different clinical courses can be discerned. Recent evidence indicates that HNA is genetically heterogeneous. Pathophysiology of the disease remains unclear, so the treatment is not clearly established.
遗传性神经性肌萎缩是一种罕见疾病,其特征为臂丛神经分布区反复出现疼痛发作。我们报告了一名12岁男孩的病例,他有几次肩部疼痛发作及肌肉萎缩。这种疾病的发病年龄各不相同,最常见于二三十岁。儿童期发病,即在十岁之前发病的情况罕见。遗传性神经性肌萎缩与散发性 Parsonage-Turner 综合征之间的区别在于反复出现的疼痛性肌无力发作以及相似的家族病例。对多个家族的分析表明,遗传性神经性肌萎缩的表型具有异质性,可辨别出两种不同的临床病程。最近的证据表明,遗传性神经性肌萎缩在基因上具有异质性。该疾病的病理生理学仍不清楚,因此治疗方法尚未明确确立。