遗传性压迫易感性神经病(4例临床与病理)

Hereditary neuropathy with liability to pressure palsies (clinic and pathology of 4 cases).

目的从临床、电生理及病理方面对遗传性压迫易感性神经病（ＨＮＰＰ）进行探讨，以提高对本病的认识。方法４例经临床及腓肠神经活检确诊，肌电图检测临床受累或未受累的肢体的感觉或运动传导速度；腓肠神经活检标本分别做ＨＥ、Ｍａｓｏｎ染色和Ｆｌｅｍｍｉｎｇ染色光镜观察。结果肌电图为广泛神经传导异常，甚至出现在临床未受累的神经支配区；腓神经活检显示部分神经纤维明显增粗，轴索正常。结论ＨＮＰＰ与遗传关系密切，但也有散发，电生理检查是重要的筛选手段。

s Objective To study the clinical,electrophysiological and neuropathological features of HNPP. Methods 4 cases of HNPP were diagnosed by sural nerve biopsy.Electromyography was recorded in clinical affected or unaffected nerve.Sural nerve biopsies were done and specimens were analyzed by HE,Masson and Flemming's myelin staining respectively. Results Electromyography demonstrated that the nerve conduction velocities were slow in clinical affected and unaffected areas.The nerve biopsies showed the presence of some large thickened myelinated fibers,but the axons were normal. Conclusions Although HNPP is concerned with heredity,there are also some sporadic cases to be found.Electrophysiologic examination is an important screen method.The definitive diagnosis was dependent on nerve biopsy and pathological observation.