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

  •  ZHU Ronghe ,
  • SUN Yuanyuan ,
  • QIAN Yan ,
  • LIANG Yaqin ,
  • CHEN Bin ,
  • YIN Weiwei
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  • 1. Department of Pediatrics, 2. Department of Ultrasonography, 3. Department of Radiology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, Zhejiang, China

Received date: 2017-07-15

  Online published: 2017-07-15

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-dayold 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.

Cite this article

 ZHU Ronghe , SUN Yuanyuan , QIAN Yan , LIANG Yaqin , CHEN Bin , YIN Weiwei . Tuberous sclerosis complex secondary to fetal heart occupying lesions: a case report and literature review[J]. Journal of Clinical Pediatrics, 2017 , 35(7) : 481 . DOI: 10.3969/j.issn.1000-3606.2017.07.001

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