A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with PIK3CA Mutation

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder characterized by megalencephaly, polymicrogyria, body overgrowth, and cutaneous capillary malformations. It has been reported recently that MCAP related to somatic mosaic mutation in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (<i>PIK3CA</i>) gene. We report case of hemimegalencephaly with polymicrogyria malformations diagnosed evaluation neonatal period. The <i>PIK3CA</i> [c.1635G>T (p. Glu545Asp)] was determined Sanger sequencing. patient treated ventriculoperitoneal shunt for progressive hydrocephalus. Because dynamic, clinical manifestations tumor-prone traits MCAP, early diagnosis important. Moreover, since phosphoinositide (PI3K)-specific inhibitor, targeted therapy PI3K/AKT/mTOR signaling pathway emerging as new therapy, becoming increasingly