Jóźwiak Sergiusz, Domańska-Pakieła Dorota, Kwiatkowski David J, Kotulska Katarzyna
Department of Neurology, The Children's Memorial Health Institute, Warsaw, Poland.
J Child Neurol. 2005 Dec;20(12):988-9. doi: 10.1177/08830738050200121101.
We report a child in whom multiple cardiac rhabdomyomas were identified on routine fetal ultrasonography. Molecular genetic studies identified the TSC2 gene missense mutation (E36; 4672 G>A, 1558 E>K TSC2). Both general and neurodevelopment of the patient have been normal. When last examined at age 6 years, he had no skin manifestations of tuberous sclerosis complex. Computed tomography of the brain revealed two periventricular calcifications consistent with the molecular diagnosis. This is the first report of molecularly confirmed tuberous sclerosis complex in a child with multiple cardiac rhabdomyomas and no other clinical manifestations of the disease. We propose that all cases of multiple cardiac rhabdomyomas in an infant be given a tentative diagnosis of tuberous sclerosis complex.
我们报告了一名在常规胎儿超声检查中发现多发心脏横纹肌瘤的儿童。分子遗传学研究鉴定出TSC2基因错义突变（E36；4672 G>A，1558 E>K TSC2）。该患者的一般发育和神经发育均正常。在6岁时最后一次检查时，他没有结节性硬化症复合体的皮肤表现。脑部计算机断层扫描显示两个脑室周围钙化，与分子诊断一致。这是首例分子确诊的结节性硬化症复合体病例，该患儿有多发心脏横纹肌瘤且无该疾病的其他临床表现。我们建议对所有婴儿期多发心脏横纹肌瘤病例进行结节性硬化症复合体的初步诊断。
