| Literature DB >> 29211682 |
Denise L Chan1, Tessa Calder2, John A Lawson1, David Mowat2, Sean E Kennedy1.
Abstract
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.Entities:
Keywords: MRI; SEGA; TSC; genotype; growth; neuroimaging
Mesh:
Substances:
Year: 2018 PMID: 29211682 DOI: 10.1515/revneuro-2017-0027
Source DB: PubMed Journal: Rev Neurosci ISSN: 0334-1763 Impact factor: 4.353