• It is characterized by facial angioma (wine-colored), hemiparesis, glaucoma and convulsions. Mental retardation is present in half of the cases. Sporadic mutations in the GNAQ gene have been shown to be responsible
pathophysiology
• It is characterized by abnormal development of the embryonic vascular bed in the early stages of facial and cerebral development. There is abnormal vascularization in the leptomeninges. There is also abnormal vascularization in the brain parenchyma below these areas. There is calcification in the cerebral cortex. Angioma is present in the first branching dermatome of the facial trigeminal nerve.
Clinical findings
• Facial angioma on the face is present from birth. In addition to cutaneous angioma, it can also be found in the buccal mucosa, tongue, palate, and pharynx.
• Contralateral hemiparesis, hemianopsia
• White matter abnormalities thought to be due to hypoxia
• Simple and complex partial convulsions
• Glaucoma
Three types are defined according to brain and facial involvement.
Type I: Both facial and leptomeningeal angiomas; may have glaucoma
Type II: Facial angioma only (no CNS involvement); may have glaucoma
Type III: Leptomeningeal angiomas only; usually no glaucoma.
Diagnosis
• EEG: Demonstration of epileptic syndromes
• Monitoring the intraocular pressure
• Parallel calcification lines giving the appearance of "tramway" on radiographs
• Calcification and parenchymal disorders can be seen on CT and MRI.
Treatment
• Convulsions are tried to be treated medically. If the convulsions are uncontrollable, the affected area can be surgically removed.
• If there is glaucoma, it is tried to be treated with medication.
• Angiofibromas on the face can be treated with laser.