Objective To explore the clinical characteristics of tuberous sclerosis complex (TSC). Methods The clinical data of one child with TSC were collected. The clinical features and gene mutation were analyzed. Results A 36-day-old girl had abnormal nodules found by echocardiography, which was considered multiple cardiac rhabdomyomas. There were multiple hypomelanotic macules distributed over the skin surface of the trunk and legs. Cranial MRI showed cortical nodules, subependymal nodules and cerebral white matter radial migration line. A mutation in the TSC2 gene (c.4541-4544delCAAA) was found by second generation high-throughput sequencing technology and tuberous sclerosis complex was confirmed. Conclusion Gene detection is helpful in the early diagnosis of tuberous sclerosis complex.%目的 探讨结节性硬化症的临床特点.方法 收集1例结节性硬化症患儿的临床资料,分析其临床特征及基因突变结果.结果 患儿,女,36日龄,胎儿及生后超声心动图发现异常回声结节,考虑为多发心脏横纹肌瘤;躯干部及双下肢有多处色素脱失斑;头颅磁共振成像示皮质结节、室管膜下结节和脑白质辐射状迁移线;高通量二代测序发现TSC2基因突变(c.4541-4544delCAAA),确诊为结节性硬化症.结论 基因检测有助于早期确诊结节性硬化症.
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