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结节性硬化症伴横纹肌瘤。

Tuberous sclerosis with rhabdomyoma.

作者信息

Ajay V, Singhal Vikram, Venkateshwarlu Vardhelli, Rajesh S M

机构信息

Department of Pediatrics, Kasturba Medical College, Manipal University, Mangalore, India.

出版信息

Indian J Hum Genet. 2013 Jan;19(1):93-5. doi: 10.4103/0971-6866.112912.

Abstract

Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.

摘要

结节性硬化症是一种神经皮肤综合征,其特征为皮肤和中枢神经系统均出现异常。我们报告一例患有心脏横纹肌瘤的结节性硬化症病例。这是一名1岁半的女童,患有婴儿痉挛症且心脏有横纹肌瘤,其母亲有结节性硬化症的神经皮肤特征。脑部磁共振成像和脑电图检查结果与诊断相符。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6033/3722639/4d2be6c24a2d/IJHG-19-93-g001.jpg

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