结节性硬化症多器官损害7例报告

目的探讨结节性硬化症多器官损害的临床特点以提高诊断治疗水平。方法回顾性分析7例结节性硬化症伴皮肤、大脑、肾脏、肝脏等多器官损害患者的临床资料,探讨其特征性临床表现及影像学改变。结果7例患者均有多器官损害,累及两个器官3例,3个及以上器官损害4例;皮肤损害主要为面部血管纤维瘤6例,皮肤色素脱失斑7例,鲨鱼皮斑3例,趾甲下纤维瘤1例;癫痫发作6例,智力低下4例,颅脑CT或MRI检查提示室管膜下结节4例,皮质结节2例;4例合并双侧肾脏多发错构瘤,1例合并肝脏错构瘤。结论特殊的皮肤损害、癫痫发作、智力低下,脑CT或MRI检查提示室管膜下结节或皮质结节或内脏多发性错构瘤为本病的主要临床特征,提高本病的认识有助于早期诊断和治疗。

Multiple organ involvement of tuberous sclerosis complex in 7 cases

Objective To evaluate the clinical characteristics multiple organ involvement of tuberous sclerosis complex to elevate diagnostic and therapic level.Methods The clinical data of 7 TSC which had lesions in skin,brian,kidney and liver were reviewed to investigate TSC's characteristic clinical manifestation and radiographic study.Results All cases showed multiple organ lesions,in which two organs were involved in three cases,three or more organs were involved in four cases.Facial angiofibroma occurred in six and hypomelanotic macules were found in seven,shark skin sign occurred in six and subungual fibroma was found in one.Epileptic seizure occurred in six and mental retardation were found in four.Brain CT or MR revealed calcified subependymal in four and calcified substantia corticalis in two.Multiple kidney hamartoma were found in four and hepatic hamartomas was found in one.Conclusions Special skin lesions,epilepsy,mental retardation,CT or MRI examination shows calcified subependymal or calcified substantia corticalis in the brain were the main clinical characteristics of TSC.To evaluate the clinical characteristics multiple organs involvement of TSC could help establish early diagnosis and therapy.