儿童结节性硬化症的临床诊断探讨

目的　探讨结节性硬化症儿科病人的特点。方法　应用美国全国结节性硬化症 1998年诊断标准 ,分析31例有结节性硬化症特征病例的临床表现并进行诊断。结果　 31例就诊年龄为 2个月至 12岁 ,中位数 2岁 1个月。儿科结节性硬化症患儿的临床表现主要有 :癫疒间 发作、精神运动发育落后、皮肤损害 (色素脱失斑和面部血管纤维瘤 )、侧脑室室管膜下结节、大脑皮质结节、心脏横纹肌瘤和肾脏血管肌脂瘤。通过临床表现 ,诊断结节性硬化症 2 5例 ,可能为结节性硬化症 2例 ,4例怀疑为结节性硬化症。结论　新的临床诊断标准对儿科患儿的特点比较重视 ,有较好的可操作性。小儿结节性硬化症常见具有诊断性意义的特征为 :皮肤损害 (色素脱失斑和面部血管纤维瘤 )、侧脑室室管膜下结节、大脑皮质结节、心脏横纹肌瘤和肾脏血管肌脂瘤

Clinical diagnosis of tuberous sclerosis in children

Objective To study the characteristics of tuberous sclerosis(TS) in children.Methods The clinical data of 31 children with TS features were studied and their diagnosis were made. Results The age of 31 children ranged from two months to twelve years with median age of two years and one month. The main clinical features of children with TS were epilepsy, psychomotor delay, dermatologic lesions(hypomelanotic macules and facial angiofibromas), subependymal nodule, cortical tuber, cardiac rhabdomyoma and renal angiomyolipoma. Of 31 cases,25 had definite TS, two probably had TS and four had suspected TS. Conclusion The diagnostic criteria(1998) pays attention to the pediatric patients and is clinically practical. The commonly encountered clinical features related to the diagnostic criteria are dermatologic lesions(hypomelanotic macules and facial angiofibromas), subependymal nodule, cortical tuber, cardiac rhabdomyoma and renal angiomyolipoma.