Tuberous sclerosis complex secondary to fetal heart occupying lesions: a case report and literature review / 临床儿科杂志

ABSTRACT

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.