Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.

ABSTRACT: PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic, gain-of-function mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes that vary considerably in their severity and tissue distribution, leading to different and complex experiences for affected children and their families. The parent of a child with the PROS disorder megalencephaly-capillary malformation (MCAP) coauthored this article. MCAP is characterized by significant neurological involvement, and she describes personal experiences with this condition, including delays associated with obtaining a correct diagnosis, findin

SUBMITTER: Dexheimer J 

PROVIDER: S-EPMC9297058 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature