Which are the symptoms of Wyburn-Mason Syndrome?

Wyburn-Mason Syndrome, also known as Bonnet-Dechaume-Blanc Syndrome, is a rare congenital disorder characterized by the presence of arteriovenous malformations (AVMs) in the brain and retina. These abnormal connections between arteries and veins can lead to a range of symptoms and complications.

Visual disturbances: One of the primary symptoms of Wyburn-Mason Syndrome is visual impairment. Individuals with this condition may experience blurred vision, decreased visual acuity, or even complete loss of vision in one or both eyes. The severity of visual disturbances can vary depending on the location and size of the AVMs.

Seizures: Another common symptom of Wyburn-Mason Syndrome is the occurrence of seizures. AVMs in the brain can disrupt normal electrical activity, leading to uncontrolled and abnormal brain function. Seizures can range from mild to severe and may require medical intervention to manage.

Headaches: Many individuals with Wyburn-Mason Syndrome experience recurrent headaches. These headaches can be severe and debilitating, often accompanied by other symptoms such as nausea, vomiting, and sensitivity to light or sound.

Facial asymmetry: In some cases, Wyburn-Mason Syndrome can cause facial asymmetry. This is due to the presence of AVMs affecting blood flow and development in the face. Facial asymmetry may be subtle or more pronounced, depending on the extent of the malformations.

Neurological deficits: Depending on the location of the AVMs in the brain, individuals with Wyburn-Mason Syndrome may experience various neurological deficits. These can include weakness or paralysis on one side of the body, difficulty with coordination and balance, speech difficulties, and cognitive impairments.

Eye abnormalities: Wyburn-Mason Syndrome affects the retina, leading to a range of eye abnormalities. These can include retinal vascular malformations, retinal hemorrhages, retinal detachment, and abnormal blood vessel growth. These eye-related symptoms can further contribute to visual impairment and may require specialized ophthalmological care.

Other potential complications: In addition to the primary symptoms mentioned above, Wyburn-Mason Syndrome can also be associated with other complications. These may include high blood pressure, aneurysms, heart problems, and increased risk of bleeding or clotting disorders.

It is important to note that the symptoms and severity of Wyburn-Mason Syndrome can vary widely among affected individuals. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience significant disabilities and require ongoing medical management.