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Article

Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP).

BMJ case reports - 30 Dec 2021

St John Lily Je, Rao Naveen

Abstract excerpt

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare disorder that arises as a result of a somatic mosaic mutation in the PIK3CA gene. It characteristically presents with postnatal or congenital megalencephaly, cutaneous capillary malformations, postaxial polydactyly and often segmental or focal body overgrowth. We report a 7-year-old boy with known MCAP who was diagnosed at around 10...

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Identifiers

PMID: 34969807
DOI: 10.1136/bcr-2021-247034
PMCID: PMC8719146

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