遗传性痉挛性截瘫散发病例的诊断

Hereditary spastic paralegia: Diagnosis and analysis of 24 sporadic cases

目的 分析遗传性痉挛性截瘫散发病例的临床特点,探讨影响预后的因素。方法 总结了20例散发遗传性痉挛性截瘫患者的临床资料,并进行了随访。结果 起病年龄平均为4岁7个月,首发症状均为步态异常,以进行性痉挛性截瘫为特征,且肌张力增高较肌力减弱更为显著。体感诱发电位检查6例中5例有异常。脊髓 MRI检查有2例异常。10例4岁前发病者,8例不能独走,5例发展为复杂型;10例4岁以后发病者,均能维持独走能力且均为单纯型。2例DDST筛查有精神发育落后的患儿均转为复杂型。结论 遗传性痉挛性截瘫散发病例的临床特点与有家族史者相似。体感诱发电位检查可能具有重要的诊断价值。4岁前发病者或早期伴有精神发育落后者预后可能较差。

Objective To summarize the manifestations and characteristics of hereditary spastic paraplegia(HSP) in sporadic cases and to analyze the factors which may influence its prognosis. Methods The clinical data of 20 children with sporadic hereditary spastic paraplegia (HSP) were collected and six of them were followed up. Results The mean age at the onset was 4 years and 7 months old. The first noticed symptom of them was an abnormal gait, clinically characterized by progressive spastic paraplegia with much more marked hypertonia than weakness. 6 cases were detected by somatosensory evoked potentials (SEP), and 5 of them revealed abnormalities. The spinal MRI abnormality was found in 2 cases. Among the 10 cases with the onset before 4- year old, 8 of them could not walk independently and 5 of them developed into the complex form of HSP later. While all 10 cases with the later onset maintained simple form of HSP with walking ability. The non-motor developmental delay in DDST in two young children developed into the complicated form of HSP later. Conclusions The clinical characteristics in HSP cases are similar to familial history. SEP may play a great role in the diagnosis of HSP. A patient with the onset before 4-year old or with non-motor developmental delay in DDST may predict a poor prognosis.