The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review

被引：20
作者：
Chan, Denise L. [1 ,2 ]
Calder, Tessa [2 ]
Lawson, John A. [1 ,2 ]
Mowat, David [2 ,3 ]
Kennedy, Sean E. [1 ,2 ]
机构：
[1] Sydney Childrens Hosp, Dept Nephrol, Randwick, NSW 2031, Australia
[2] Univ New South Wales, Fac Med, Sch Womens & Childrens Hlth, Sydney, NSW 2000, Australia
[3] Sydney Childrens Hosp, Ctr Clin Genet, Randwick, NSW 2031, Australia
来源：
REVIEWS IN THE NEUROSCIENCES | 2018年 / 29卷 / 03期
关键词：
genotype; growth; MRI; neuroimaging; SEGA; TSC; CONSENSUS CONFERENCE; EARLY-DIAGNOSIS; 2-HIT MODEL; TUMORS; RECOMMENDATIONS; PATHOGENESIS; CHILDREN; EXPRESSION; EVEROLIMUS; SEVERITY;
D O I：
10.1515/revneuro-2017-0027
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Tuberous sclerosis complex (TSC) is an autosomal-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.
引用
收藏
页码：295 / 301
页数：7
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