结节性硬化症的诊断与病例分析

Diagnosis and analysis of cases of tuberous sclerosis

目的通过对结节性硬化症(TS)的病例分析及文献复习加深对TS的认识,以提高临床诊断水平。方法对三例临床诊断为TS的临床资料进行系统分析并复习文献。结果三例患者都有典型的皮肤改变,包括色素脱失斑、面部血管纤维瘤、指(趾)甲纤维瘤和鲨鱼皮斑。同时又有不同程度的全身多脏器受累,包括智能减退、癫痫、脑室管膜瘤,心肌纤维瘤和肾脏错构瘤。其中癫痫发作的年龄越早,患者的智能减退越严重。结论 TS是一种较为罕见的常染色体显性遗传病,临床表现累及神经系统、皮肤、眼部及内脏等多个器官。随着对TS临床特征和病理生理机制全面、系统的认识,以及新药物的研发,其预后也将得到根本的改善。

Objective To improve understanding of tuberous sclerosis （TS） , and its diagnosis and treatment, by summary of case reports and literature review. Methods Summary of clinical manifestations and neuroimaging, treatment and outcome of three cases of TS, and literature review were performed. Results All three cases had typical skin lesions, including hypomelanotic, facial angiofibroma, ungual fibroma. And multiple systems are involved, including intelligence impairment, epilepsy, subependymal nodules, cardiac rhabdomyoma, kidney hamartoma. The younger age of onset of seizure, the more sever intelligence impairment patient develops. Conclusion TS is a rare autosomal dominant hereditary disease. The manifestation involve multiple organs, including central nervous system, skin, eye and internal visceral. The better understanding of TS in clinical, pathological and physiological process will lead the advancement of pharmacological development and better outcome of the patients.