在一个17个月大的结核性硬化综合体:一个案例报告
Sarjan K C1, Anjana Bohaju1, Sunil Raja Manandhar2
1Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
JNMA; journal of the Nepal Medical Association
|July 19, 2023
概括
结核性硬化综合体是一种遗传性疾病,可以引起微妙的发作. 早期诊断对于管理这种情况和预防耐火性至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 在瘤学瘤学.
背景情况:
- 结核性硬化综合体 (TSC) 是一种罕见的自体主导性疾病.
- 它源于瘤抑制基因TSC1或TSC2的突变.
- 这导致mTOR通路过度激活,影响多个器官,特别是中枢神经系统.
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