{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T13:27:58Z","timestamp":1769347678768,"version":"3.49.0"},"reference-count":7,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,11,30]]},"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:p>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 months old with a mosaic change in the PIK3CA gene. He was found to have hall-mark clinical signs; macrocephaly and four-limb postaxial polydactyly. Since diagnosis, he has had multiple clinical features, most of which typically present in children with MCAP. He has now been diagnosed with autism spectrum disorder (ASD), demand avoidance and is under assessment for attention deficit hyperactivity disorder. Although some cases have been raised to the <jats:italic>M-CM Network,<\/jats:italic> to our knowledge this is the first case of ASD in MCAP to be reported in the literature.<\/jats:p>","DOI":"10.1136\/bcr-2021-247034","type":"journal-article","created":{"date-parts":[[2021,12,30]],"date-time":"2021-12-30T08:42:04Z","timestamp":1640853724000},"page":"e247034","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)"],"prefix":"10.1136","volume":"14","author":[{"given":"Lily JE","family":"St John","sequence":"first","affiliation":[{"name":"School of Medical Sciences, University of Manchester, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naveen","family":"Rao","sequence":"additional","affiliation":[{"name":"Paediatrics Wythenshawe, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,12,30]]},"reference":[{"key":"2025082701321941000_14.12.e247034.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34402"},{"key":"2025082701321941000_14.12.e247034.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31361"},{"key":"2025082701321941000_14.12.e247034.3","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199710000-00001"},{"key":"2025082701321941000_14.12.e247034.4","unstructured":"M-CM . M-CM Network\u2014Description, 2021. Available: https:\/\/www.m- cm.net\/description\/overview [Accessed 12\/06\/2021]."},{"key":"2025082701321941000_14.12.e247034.5","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1111\/cge.13918","article-title":"Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials","volume":"99","author":"Garde","year":"2021","journal-title":"Clin Genet"},{"key":"2025082701321941000_14.12.e247034.6","unstructured":"Mirzaa G , Conway R , Graham JM . PIK3CA-related segmental overgrowth. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews. Seattle (WA): University of Washington, Seattle Copyright \u00a9 1993-2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle., 2013."},{"key":"2025082701321941000_14.12.e247034.7","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0182-4"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-247034","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:32:28Z","timestamp":1756283548000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-247034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12]]},"references-count":7,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2021,12,30]]},"published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1136\/bcr-2021-247034"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-247034","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12]]}}}