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本文报告遗传性压迫易感性神经病一家系母女 2例患者的临床及电生理资料。2例均在 2 5岁起病 ,呈常染色体显性遗传。临床表现为反复肢体麻木、乏力 ,多于用力、提重物或轻度外伤后出现 ,数日至半个月左右自行好转。电生理检查有弥漫性神经传导速度减慢。周围神经病理特点为节段性脱髓鞘及腊肠样结构形成。已发现大部分本病家系均有 17p11.2上一 1.5Mb片段 (含有 PMP- 2 2基因 )的大缺失 ,少数家系为 PMP- 2 2基因碱基缺失。及时诊断 ,避免重体力劳动和外伤 ,可明显改善患者的预后
This article reports the clinical and electrophysiological data of 2 patients with hereditary repressive susceptibility neuropathy in a pedigree. 2 cases were onset at age 25, was autosomal dominant. Clinical manifestations of repeated limb numbness, fatigue, more than force, heavy or light trauma occurred after a few days to half a month or so self-improvement. Electrophysiological examination with diffuse slow nerve conduction velocity. Peripheral neuropathology is characterized by segmental demyelination and sausage-like structures. It has been found that most of the pedigrees in this family have a large deletion of the previous 1.5 Mb fragment (containing the PMP-2 2 gene) of 17p11.2, and few families have a base deletion of the PMP-2 gene. Timely diagnosis, to avoid heavy manual labor and trauma, can significantly improve the prognosis of patients