遗传性感觉交感神经病Ⅰ型一家系的临床、电生理和病理改变

Clinical electrophysiological and pathological study on hereditary sensory and autonomic neuropathy type Ⅰ in a Chinese family

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 clinical, electrophysiological and pathological changes in type Ⅰ of hereditary sensory and autonomic neuropathy （HSAN） in a Chinese family. Methods The proband was a 28-year old man with pain loss in both legs as well as painless ulcer over 1 year. His mother also suffered from numbness and multiple ulcer of feet in her thirties. Sympathetic skin response （SSR） , motor and sensory nerve conduction velocity as well as sural nerve biopsy were performed in the proband. Results The amplitude of SSR was delayed in the hands and disappeared in the feet. Sensory nerve conduction velocity （SCV） was slow in the upper limbs （ the SCV of right ulnar nerve was 33 m/s and of left median nerve was 45 m/s） and vacant in the low limbs. Motor nerve conduction velocity was mildly decreased in the upper limbs and markedly slowed down or did not react in the low limbs. Sural nerve biopsy showed total loss of myelinated fibers and marked loss of unmyelinated fibers. Conclusions Our study confirmed the existence of type Ⅰ HSAN in China. Both myelinated and unmyelinated fibers were involved. SSR, evaluating the function of sympathetic nerve, is useful for the diagnosis of HSAN.