摘要
目的探讨结节性硬化症的临床特征与影像学诊断价值。方法回顾性分析本院22例经临床确诊的结节性硬化症患者的临床资料和影像学表现。结果22例中,男性12例,女性10例,平均年龄7.3岁;2例有家族史;22例中有3例症状不清,其余19例除1例以面部皮疹2年就诊外,均以发作性癫痫就诊且其中4例伴智力低下;22例均有特征性室管膜下结节,其中21例并双侧大脑半球多发异常改变;12例伴皮肤表现异常,2例伴有面部皮质腺瘤,1例伴右侧室管膜下巨细胞星形细胞瘤,1例伴双侧室管膜瘤,1例伴Dandy-Wallker畸形,1例伴右侧重复肾,2例伴右肾错构瘤,1例伴双肾多发结节,1例伴先天性动脉导管未闭,2例伴心脏横纹肌肉瘤,1例伴肝多发错构瘤,2例伴多发骨质硬化改变。结论结节性硬化症临床表现复杂多变,伴多器官受累并具有一定的影像学特征。熟悉各系统病变的特征及影像学表现,有助于临床诊断更加简明和精确。
Objective To explore the clinical features and the imaging diagnosis value of tuberous sclerosis.Methods We retrospectively analyzed the clinical data and imaging findings of 22 patients with tuberous sclerosis clinically diagnosed in our hospital.Results There were 12 male and 10 female patients,with the mean age of 7.3 years.Among them,2 patients had a family history;3 had unclear symptoms and the rest 19 ones except 1 had facial skin rashes for two years,which led to seek for medical help,and the other 18 had epilepsy attack,including 4 with mental retardation.All the 22 patients had characteristic subependymal nodules,including 21 patients with multiple abnormal changes in the bilateral cerebral hemispheres.There were 12 cases with abnormal skin appearance,2 cases accompanied by facial cortical adenoma,1 case with right subependymal giant cell astrocytoma,1 case with bilateral ependymoma,1 case with Dandy-Wallker malformation,1 case with right renal duplication,2 cases with renal hamartoma,1 case with multiple renal nodules,1 case with congenital patent ductus arteriosus,2 cases with cardiac rhabdomyosarcoma,1 case with multiple hepatic hamartoma,and 2 cases with multiple sclerotin sclerosis changes.Conclusion The clinical manifestations of tuberous sclerosis are complex and variable,and there are certain imaging characteristics associated with multi-organ involvement.Familiarity with the characteristics and imaging manifestations of lesions in various systems can make the clinical diagnosis more concise and accurate.
作者
刘朵朵
仲津漫
李晓会
杨全新
LIU Duoduo;ZHONG Jinman;LI Xiaohui;YANG Quanxin(Department of Radiology, The Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710004, China)
出处
《西安交通大学学报（医学版）》
CAS
CSCD
北大核心
2021年第3期433-437,共5页
Journal of Xi’an Jiaotong University（Medical Sciences）
