Megalencephaly-Capillary Malformation SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Megalencephaly-Capillary Malformation Syndrome
Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
MCAP is caused by mutations in the PIK3CA gene, which provides instructions for making the p110 alpha (p110α) protein. This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division (proliferation), movement (migration) of cells, and cell survival. These functions make PI3K important for the development of tissues throughout the body, including the brain and blood vessels.
The prevalence of MCAP is unknown. At least 150 affected individuals have been reported in the medical literature. Because the condition is often thought to be misdiagnosed or underdiagnosed, it may be more common than reported.
MCAP is not inherited from a parent and does not run in families. In people with MCAP, a PIK3CA gene mutation arises randomly in one cell during the early stages of development before birth. As cells continue to divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism.
ETSU Pediatrics- St. Jude's Clinic
Marcela Popescu is a Hematologist and an Oncologist practicing medicine in Johnson City, Tennessee. Dr. Popescu is rated as an Experienced provider by MediFind in the treatment of Megalencephaly-Capillary Malformation Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Hereditary Spherocytosis, Von Willebrand Disease (VWD), Evans Syndrome, and Hemophilic Arthropathy. Dr. Popescu is board certified in American Board Of Pediatrics.
St. Christopher's Pediatric Associates Radiology - E. Erie Avenue
Sarah Contrucci is a Radiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Megalencephaly-Capillary Malformation Syndrome. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Contrucci is board certified in American Board Of Radiology.
ETSU Physicians & Associates- Pediatrics
Jennifer Gibson is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Gibson is rated as an Experienced provider by MediFind in the treatment of Megalencephaly-Capillary Malformation Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Obesity in Children, Delayed Growth, Autism Spectrum Disorder, and Diarrhea. Dr. Gibson is board certified in American Board Of Pediatrics.
Published Date: June 01, 2017
Published By: National Institutes of Health