Meningo Oculo Facial Angiomatoses, also known as Sturge-Weber syndrome or encephalotrigeminal angiomatosis, is a rare congenital disorder that primarily affects the blood vessels and tissues in the face, brain, and eyes. It is characterized by the presence of certain symptoms, including a birthmark called a port-wine stain, glaucoma, and seizures.
The term "meningo" refers to the involvement of the meninges, which are the protective membranes covering the brain and spinal cord. "Oculo" indicates the association with ocular (eye) manifestations such as glaucoma or abnormalities of the eye. "Facial" denotes the involvement of the facial area, commonly seen as a port-wine stain birthmark. "Angiomatoses" refers to the presence of abnormal blood vessels or vascular malformations.
The condition is typically caused by a somatic mutation, which means that it occurs sporadically during embryonic development and is not typically inherited from parents. The mutation affects a gene responsible for controlling blood vessel development, resulting in the formation of abnormal blood vessels.
Individuals with Meningo Oculo Facial Angiomatoses may experience varying degrees of symptoms and severity. These can include seizures, intellectual or developmental disabilities, hemiparesis (weakness on one side of the body), visual impairments, and hormonal imbalances.
Treatment for Meningo Oculo Facial Angiomatoses aims to manage its associated symptoms and improve the individual's overall quality of life. This may involve anticonvulsant medications to control seizures, laser therapy for the port-wine stain birthmark, surgery or medication for glaucoma, and interventions for developmental delays or physical impairments. Close monitoring and support
