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

  • Denise L. Chan , Tessa Calder , John A. Lawson , David Mowat und Sean E. Kennedy EMAIL logo
Veröffentlicht/Copyright: 6. Dezember 2017
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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.

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Received: 2017-4-20
Accepted: 2017-8-11
Published Online: 2017-12-6
Published in Print: 2018-3-28

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