婴儿结节性硬化一例报道及文献复习-现代医学

婴儿结节性硬化一例报道及文献复习

单位：兰州大学第一临床医学院儿科, 甘肃兰州 730030

分类号：R725.9

出版年·卷·期（页码）：2022·50·第三期（380-383）

摘要：

结节性硬化(TSC)是一种以TSC1和TSC2基因突变为主，导致多器官良性肿瘤为特征的常染色体显性遗传疾病。因其临床表现复杂多样，特别是早期发病患儿临床表现不典型，给TSC的诊断带来了困难。现报道1例3月龄TSC患儿并进行相关文献复习。

Tuberous sclerosis complex(TSC) was an autosomal dominant disease characterized by mutations in the TSC1 and TSC2 genes that led to benign tumors in multiple organs. Due to the complex and varied clinical manifestations, especially the atypical clinical manifestations in children with early onset, it was difficult to diagnose TSC. A 3-month-old infant diagnosed with TSC is reported and the relevant literature was reviewed.

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