Meningo Oculo Facial Angiomatosis, also known as Sturge-Weber syndrome, is a rare neurocutaneous disorder characterized by the presence of port wine stains, nervous system abnormalities, and eye complications. This condition is primarily caused by a somatic mutation in the GNAQ gene during embryonic development.
The main physical feature of Meningo Oculo Facial Angiomatosis is a distinctive deep red or purple birthmark, often referred to as a port wine stain, which typically affects the face and sometimes extends to other parts of the body. In addition to the skin manifestation, individuals with this syndrome may also present ocular abnormalities, such as glaucoma, increased intraocular pressure, and retinal detachment. Neurological complications are common and can range from seizures, developmental delays, and intellectual disabilities to hemiparesis and stroke-like episodes.
Diagnosis of Meningo Oculo Facial Angiomatosis is often made through clinical examination and confirmed by brain imaging techniques, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans. Genetic testing may be utilized to detect the presence of the GNAQ gene mutation.
Management of this disorder focuses on symptomatic treatment and varies depending on the severity of the symptoms. It typically includes a combination of medication to control seizures, eye drops or surgical interventions for ocular complications, and various therapies, such as physical therapy and speech therapy, to address developmental delays and disabilities.
While there is currently no cure for Meningo Oculo Facial Angiomatosis, early intervention and comprehensive healthcare support can significantly improve an individual's quality of life and overall prognosis. Regular medical follow-ups are essential to monitor and manage potential complications that may arise from this condition.
