论文部分内容阅读
目的报道一个遗传性感觉交感神经病Ⅰ型(HSANⅠ)家系的临床、病理和电生理改变特点。方法先证者为28岁男性,出现双下肢痛觉缺失1年余,伴随双脚多发溃疡,先证者之母在30岁出现双足麻木和溃疡。对先证者的周围神经和自主神经进行电生理检查,对腓肠神经进行病理检查。结果先证者手部皮肤交感反应延长,在足部没有引出;感觉神经传导速度在上肢出现减慢,(右尺神经33m/s,左正中神经45m/s),在下肢无反应;运动神经传导速度在上肢正常或减慢,在下肢减慢或无反应。腓肠神经的有髓神经纤维完全脱失,无髓神经纤维出现严重脱失。结论我国存在HSANⅠ型家系,病理检查显示有髓神经纤维和无髓神经纤维均被严重累及。皮肤交感反应检查交感神经损害的程度有助于该病的诊断。
Objective To report the clinical, pathological and electrophysiological changes of a hereditary sympathetic sympathetic dementia type Ⅰ (HSAN Ⅰ) pedigree. Method Proof of 28-year-old male, appeared lower extremity pain loss more than 1 year, accompanied by multiple ulcers, the mother of proband appeared in the 30-year-old feet numbness and ulcers. The proband’s peripheral nerves and autonomic nervous electrophysiological examination of the sural nerve pathological examination. Results The proband’s hand skin prolonged the sympathetic response and did not lead to the foot. The sensory nerve conduction velocity slowed down in the upper extremity (33 m / s of right ulnar nerve and 45 m / s of left median nerve) The conduction velocity is normal or slow in the upper extremities, slowing or not responding in the lower extremities. Sural nerve myelinated nerve fibers completely lost, no serious loss of myelinated fibers. Conclusion There is HSAN Ⅰ pedigree in our country. Pathological examination showed that myelinated nerve fibers and unmyelinated nerve fibers were severely involved. The extent to which sympathetic nerve damage is affected by the skin sympathetic reaction helps diagnose the disease.