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目的研究孪生子患单纯型遗传性痉挛性截瘫(HSP)的临床特征与卵型鉴定。方法对一对患单纯型HSP孪生兄弟的临床特点和症状进行分析并跟踪随访,同时作孪生子卵型鉴定。结果(1)孪生子均缓慢起病,步态不稳,下肢笨拙,上下楼困难,逐渐发展为双下肢痉挛性不完全性截瘫;(2)下肢肌张力增高,肌力Ⅳ级,腱反射亢进,髌、踝阵挛阳性,Babinski征阳性,屈性病理反射阳性;(3)16个STR位点的等位基因均相同,提示为同卵双生。结论孪生子同患单纯型HSP的临床特点与一般HSP无异,作16个STR位点的PCR可快速、准确地鉴定孪生子的卵型。
Objective To study the clinical features and egg type identification of twins with simple hereditary spastic paraplegia (HSP). Methods The clinical features and symptoms of a pair of simple HSP twin siblings were analyzed and followed up for the identification of twin ovum. Results (1) The twins were both slow onset, unsteady gait, clumsiness in lower extremities, difficulty in going up and down, and gradual development of spastic incomplete paraplegia of both lower extremities. (2) Lower extremity muscle tone increased, muscle strength grade Ⅳ, tendon reflex Hyperthyroidism, patella, ankle clonus positive, Babinski sign positive, reflex pathology reflex positive; (3) The 16 STR loci allele are the same, suggesting that the same twins. Conclusion The clinical features of twins with simplex type HSP are similar to those of normal HSPs. PCR of 16 STR loci can rapidly and accurately identify the ovum of the twins.