以癫癎为首发表现的小儿结节性硬化症的临床特征及影像学特点

Diagnosis of tuberous sclerosis in kids initiated by epilepsy

目的探讨以癫癎为首发表现的小儿结节性硬化症的临床及影像学特点。方法按美国全国结节性硬化症1998年诊断标准,对16例结节性硬化症患儿的临床资料进行分析。结果 16例患儿中起病年龄<2岁14例(87.5%);全部患儿均以癫癎发作为首发症状,有皮肤表现者15例(93.75%),以色素脱失斑最多见,智力低下者8例(50%);全部患儿均有脑CT或MRI改变。结论癫癎、特殊的皮肤损害为本病的主要临床特征,脑CT或MRI检查有助于明确诊断。

ObjectiveTo investigate the clinical and imaging characteristics of tuberous sclerosis complex among kids initiated by epilepsy.MethodsAccording to National Diagnosis Standards on Tuberous Sclerosis Complex of US,1998,clinical materials of 16 kids with tuberous sclerosis complex were analyzed.ResultsAmong these 16 sick kids,there were 14 cases aging less than 2 years old,accounting for 87.5 percent;all kids had epilepsy as the first symptom;15 cases had symptoms on skin,most with depigmentation,accounting for 93.75 percent;and 8 cases were weak mentally,accounting for 50 percent and all kids could be found changes in CT or MRI tests.ConclusionSuch characters as epilepsy or special skin damages are main clinical characteristics of TSC,and CT or MRI tests are helpful in confirming the disease.