结节性硬化症患者室管膜下巨细胞星形细胞瘤的自然史：综述。
The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review.
机构信息
Department of Neurology, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, NSW 2000, Australia.
出版信息
Rev Neurosci. 2018 Mar 28;29(3):295-301. doi: 10.1515/revneuro-2017-0027.
Tuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus. Current management is hampered by a lack of understanding regarding the natural history, behaviour and growth patterns of SEGA. We review the current literature to summarise what is known about SEGA in the following areas: (1) diagnostic criteria, (2) prevalence, (3) origin, (4) imaging characteristics, (5) growth rate, (6) genotype-phenotype correlation, (7) congenital SEGA and (8) SEGA as a marker of severity of other TSC manifestations.
结节性硬化症复合征（TSC）是一种常染色体显性遗传疾病，发病率约为每 6000 例出生 1 例，其特征是 mTOR 活性失调和多部位错构瘤。室管膜下巨细胞星形细胞瘤（SEGA）是一种错构瘤，影响多达 24%的 TSC 患者。它们位于脑室中，可能导致危及生命的阻塞性脑积水。目前的管理受到对 SEGA 的自然史、行为和生长模式缺乏了解的阻碍。我们回顾了当前的文献，以总结以下方面关于 SEGA 的已知信息：（1）诊断标准，（2）患病率，（3）起源，（4）影像学特征，（5）生长速度，（6）基因型-表型相关性，（7）先天性 SEGA 和（8）SEGA 作为其他 TSC 表现严重程度的标志物。
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