Meningofacial Angiomatosis Cerebral Calcification Syndrome, also known as Sturge-Weber Syndrome, is a rare congenital disorder characterized by the presence of facial capillary malformations, typically on one side of the face. This syndrome primarily affects the blood vessels in the brain, skin, and eyes, leading to a range of associated symptoms and complications.
The term "meningofacial" refers to the involvement of the meninges, which are the protective membranes surrounding the brain and spinal cord, and the face. "Angiomatosis" refers to the presence of abnormal blood vessel growth or malformations, particularly evident in the affected facial area. "Cerebral calcification" describes the accumulation of calcium deposits within the brain, which can be detected through imaging techniques.
Individuals with this syndrome may exhibit a range of symptoms, including seizures, intellectual disability, visual impairment, headaches, developmental delays, and certain neurological deficits. The severity and specific manifestations of the syndrome can vary significantly from person to person.
The condition is caused by a somatic mutation in the GNAQ gene, which leads to abnormalities in the development of blood vessels during fetal development. Meningofacial Angiomatosis Cerebral Calcification Syndrome is typically diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing.
Treatment for this syndrome primarily focuses on managing the associated symptoms and complications. This may involve the use of anti-seizure medications, surgical removal of certain brain calcifications or glaucoma treatment. Early intervention and multidisciplinary care are often essential to optimizing the quality of life for individuals affected by this rare disorder.
