Tuberous sclerosis complex secondary to fetal heart occupying lesions: a case report and literature review

VernacularTitle:以胎儿心脏占位为首发表现的结节性硬化症1例报告并文献复习
Author: Ronghe ZHU ; Yuanyuan SUN ; Yaqin LIANG ; Bin CHEN ; Weiwei YIN ; Yan QIAN
Keywords: tuberous sclerosis complex; TSC2 gene; cardiac tumor
From: Journal of Clinical Pediatrics 2017;35(7):481-484
CountryChina
Language:Chinese
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.