School of Medical Sciences, University of Manchester, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK
Paediatrics Wythenshawe, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK.
BMJ Case Rep. 2021 Dec 30;14(12):e247034. doi: 10.1136/bcr-2021-247034.
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 to our knowledge this is the first case of ASD in MCAP to be reported in the literature.
巨脑-毛细血管畸形-多小脑回畸形综合征（MCAP）是一种罕见疾病，由 PIK3CA 基因突变引起。其特征性表现为出生后或先天性巨脑畸形、皮肤毛细血管畸形、轴后多指畸形，且常出现节段性或局限性过度生长。我们报告了一例已知患有 MCAP 的 7 岁男孩，其 PIK3CA 基因在大约 10 个月大时被诊断为镶嵌性改变。他被发现具有标志性的临床体征；大头畸形和四肢轴后多指畸形。自诊断以来，他出现了多种临床特征，其中大多数在患有 MCAP 的儿童中常见。他现在被诊断为自闭症谱系障碍（ASD），存在需求回避，并正在接受注意力缺陷多动障碍的评估。虽然已经有一些病例报道，但据我们所知，这是 MCAP 合并 ASD 的首例病例报道。
