遗传性压迫易感性周围神经病(附一家系2例报告)

Hereditary predisposition oppression peripheral neuropathy ( with a line 2 cases)

目的报道一家系2例遗传性压迫易感性周围神经病(HNPP),以提高对本病的认识及诊断水平。方法 2例均行详细肌电图、运动及感觉神经传导速度、运动神经远端潜伏期测定。结果例1,临床表现为右足反复的压迫或牵拉后无力和麻木;例2,为例1姐姐,11 y前发病,现查体无周围神经病表现。2例电生理检查示广泛性神经传导速度减慢,特别是周围神经易嵌压部位运动传导速度减慢更明显,运动神经远端潜伏期延长,包括临床未受累的神经。结论神经电生理检查是诊断HNPP重要的筛选手段,确诊有赖于腓肠神经活检的典型病理表现及基因检测。

Objective reported two cases in a family of hereditary susceptibility to peripheral neuropathy oppression （ HNPP）, to raise awareness of the disease and diagnosis. Methods Two patients underwent detailed EMG, motor and sensory nerve conduction velocity, motor nerve distal latency measurement. Results The clinical manifestations of patients with a right foot after repeated compression or stretch weakness and numbness. Example 2 as an example a sister, 11 years ago,the disease, peripheral neuropathy currently no examination performance. Two cases of physiological examination revealed extensive electrical slows nerve conduction velocity, especially peripheral nerve entrapment site easy to slow down the more obvious motor conduction velocity, motor nerve distal latency, including clinically uninvolved nerves. Conclusion The neurophysiological examination is an important diagnostic HNPP screening methods, diagnosis depends on the typical sural nerve biopsy pathology and genetic testing.