Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Department of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Sci China Life Sci. 2017 Jul;60(7):763-771. doi: 10.1007/s11427-017-9091-x. Epub 2017 Jun 14.
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children.The earliest manifestations of TSC were skin lesions (80% of patients) and seizures (75%). Fourteen of the children presented with retinal hamartomas, and 2 of these underwent eye enucleation at other hospitals through misdiagnosis. On magnetic resonance imaging, 18 children exhibited subependymal nodules, and 16 ones showed cortical nodules. 5 cases of non-renal hamartomas, 5 cases of multiple renal cysts, and 5 cases of cardiac rhabdomyomas were observed. The genotyping of TSC1 and TSC2 in 14 children revealed 11 with mutations in TSC2, 2 with mutations in TSC1, and no mutations of either gene in one patient. Eight of these observed mutations are reported here in for the first time. The illness presentations of the TSC2-mutated patients were more severe than that of patients carrying TSC1 mutations.There were differences in the mutations of TSC genes in Chinese children from those reported in other countries. The described clinical characteristics and genotyping will help pediatric neurologists to understand, diagnosis, and treat TSC.
结节性硬化症（TSC）是一种神经皮肤综合征，临床表现严重，是一种常染色体显性遗传疾病，涉及多个器官和系统。我们回顾性调查了 20 例中国儿童 TSC 的临床表现和基因型，以便在中国提出知情诊断和监测建议。对 20 例 TSC 患儿（7.00±5.30 岁）的临床表现进行回顾性分析。对 14 例患儿进行 TSC1 和 TSC2 基因检测。14 例患儿最早表现为皮肤损害（80%的患者）和癫痫发作（75%）。14 例患儿有视网膜错构瘤，其中 2 例因误诊在其他医院行眼球摘除术。磁共振成像显示 18 例患儿有室管膜下结节，16 例患儿有皮质结节。5 例非肾性错构瘤，5 例多发性肾囊肿，5 例心脏横纹肌瘤。14 例患儿的 TSC1 和 TSC2 基因分型显示 11 例为 TSC2 突变，2 例为 TSC1 突变，1 例为无基因突变。其中 8 个观察到的突变是首次报道。TSC2 突变患者的病情比携带 TSC1 突变的患者更严重。中国儿童 TSC 基因的突变与其他国家报道的不同。所描述的临床特征和基因分型将有助于儿科神经科医生了解、诊断和治疗 TSC。
