Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.

Journal: The Canadian Journal Of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques

Published: July 08, 2020

Abstract

Megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome (OMIM #602501) is characterized by megalencephaly, midline capillary malformations, and cortical malformations. This genetic overgrowth syndrome is associated with mosaic gain-of-function pathogenic PIK3CA variants (OMIM #171834).

Authors

Olivier Fortin, Mohammed Ashour, Caroline Lacroix, Christine Sabapathy, Kenneth Myers

Relevant Conditions

Mesenteric Venous Thrombosis, Polymicrogyria, Deep Vein Thrombosis, Cortical Dysplasia, Increased Head Circumference

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