遗传性痉挛性截瘫伴薄型胼胝体的临床特征

Clinical characteristics of hereditary spastic paraplegia with thin corpus callosum

目的 探讨遗传性痉挛性截瘫伴薄型胼胝体 (HSP TCC)的临床特征。方法 对 4例HSP TCC患者的临床资料进行回顾性分析。结果 4例患者均于青少年起病 ,表现为智能低下 ,痉挛步态 ,双下肢痉挛、无力 ,腱反射亢进 ,病理征阳性 ,无感觉障碍。 2例有共济失调及大小便障碍 ;1例有双上肢痉挛及肌肉萎缩。头颅MRI显示胼胝体变薄。结论 HSP TCC的主要临床特征为青少年起病的痉挛性截瘫、智能低下 。

Objective To explore the clinical characteristics of hereditary spastic paraplegia with thin corpus callosum(HSP TCC).Methods Clinical data of 4 patients with HSP TCC were analysed retrospectively.Results 4 patients were at the onset during youngsters,they revealed mental impairment,walk of spasticity,spasticity of the lower extremities,slowly progressive weakness and hyperreflexia, extensor plantar responses and morbid indication for positive. Sensory impairment was not observed. 2 cases showed ataxia and sphincter disturbance;1 case showed upper limb spasticity and muscular atrophy. Cranial MRI revealed an extremely thin corpus callosum on sagittal image.Conclusion Main clinical characterizations of HSP TCC were slowly progressive spastic paraparesis, mental impairment during youngsters, cranial MRI showed extremely thin corpus callosum.