Megalencephaly Capillary Malformation Polymicrogyria Syndrome (MCAP) is a rare genetic disorder characterized by several neurological abnormalities. It is caused by mutations in the PIK3CA gene, which plays a crucial role in regulating cell growth and division.
MCAP is primarily characterized by megalencephaly, which refers to an abnormally large brain size. Individuals with MCAP may also exhibit capillary malformations, which are abnormal clusters of blood vessels on the skin. Another common feature is polymicrogyria, a condition where the brain has an excessive number of small, folded gyri.
Individuals with MCAP may experience a wide range of symptoms, including developmental delays, intellectual disability, seizures, muscle weakness, and distinctive facial features. The severity of symptoms can vary significantly among affected individuals.
Diagnosis of MCAP is typically based on clinical evaluation, brain imaging studies, genetic testing, and analysis of the PIK3CA gene. Treatment options for MCAP are limited and mainly focus on managing the associated symptoms and providing supportive care.