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.
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.
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。
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