What is Wyburn-Mason Syndrome

Wyburn-Mason Syndrome is a rare congenital disorder characterized by the presence of abnormal blood vessels in the brain and eyes. It is also known as Bonnet-Dechaume-Blanc Syndrome or Racemose Hemangiomatosis. The condition is non-hereditary and occurs sporadically.

The syndrome primarily affects the central nervous system and ocular structures. In the brain, there are arteriovenous malformations (AVMs) which are abnormal connections between arteries and veins. These AVMs can cause various neurological symptoms such as seizures, headaches, and visual disturbances. In the eyes, there are vascular malformations that can lead to vision loss, retinal detachment, and other eye abnormalities.

Diagnosis of Wyburn-Mason Syndrome is typically made through a combination of clinical evaluation, imaging studies (such as angiography and MRI), and ophthalmological examinations. Treatment options are limited and mainly focus on managing symptoms and preventing complications. In some cases, interventions like laser therapy or surgery may be considered to address specific issues.

Due to the complexity and potential severity of the condition, individuals with Wyburn-Mason Syndrome require multidisciplinary care involving neurologists, ophthalmologists, and other specialists to optimize their management and quality of life.