Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis

Olivier Fortin; Mohammed Ashour; Caroline Lacroix; Christine A Sabapathy; Kenneth A Myers

doi:10.1017/cjn.2020.127

Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis

Can J Neurol Sci. 2020 Nov;47(6):828-829. doi: 10.1017/cjn.2020.127. Epub 2020 Jun 23.

Authors

Olivier Fortin¹, Mohammed Ashour^{1

2}, Caroline Lacroix³, Christine A Sabapathy^{4

5}, Kenneth A Myers^{1

4

6}

Affiliations

¹ Department of Pediatrics, Division of Child Neurology, Montreal Children's Hospital, McGill University Health Centre, Montreal, PQ, Canada.
² Department of Pediatrics, University of Jeddah, Jeddah, Saudi Arabia.
³ Department of Medical Imaging, Montreal Children's Hospital, McGill University Health Centre, Montreal, PQ, Canada.
⁴ Research Institute of the McGill University Health Center, Montreal, PQ, Canada.
⁵ Department of Pediatrics, Division of Hematology-Oncology, Montreal Children's Hospital, McGill University Health Centre, Montreal, PQ, Canada.
⁶ Department of Neurology & Neurosurgery, McGill University Health Centre, Montreal, PQ, Canada.

PMID: 32631464
DOI: 10.1017/cjn.2020.127

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).

Keywords: Cerebral sinus venous thrombosis; Macrocephaly; Megalencephaly-capillary malformation-polymicrogyria; PIK3CA; Stroke.

MeSH terms

Capillaries / abnormalities
Humans
Megalencephaly* / diagnostic imaging
Megalencephaly* / genetics
Mutation / genetics
Polymicrogyria* / complications
Polymicrogyria* / diagnostic imaging
Polymicrogyria* / genetics
Vascular Malformations
Venous Thrombosis*

Supplementary concepts

Capillary Malformations, Congenital, 1