Wyburn-Mason syndrome
Wyburn-Mason Syndrome
Wyburn-Mason Syndrome (pronunciation: wy-burn-may-son sin-drome), also known as Bonnet-Dechaume-Blanc syndrome or retinoencephalofacial angiomatosis, is a rare, nonhereditary vascular disorder characterized by arteriovenous malformations (AVMs) affecting the retina, midbrain, and facial skin.
Etymology
The syndrome is named after R. Wyburn-Mason, a British ophthalmologist who first described the condition in 1943. The alternate name, Bonnet-Dechaume-Blanc syndrome, is derived from the names of the French physicians who independently reported similar cases.
Symptoms
The symptoms of Wyburn-Mason Syndrome can vary greatly depending on the location and extent of the AVMs. Common symptoms include visual impairment, headache, seizures, and distinctive facial features such as port-wine stains.
Diagnosis
Diagnosis of Wyburn-Mason Syndrome is typically made based on clinical findings, particularly the presence of retinal AVMs. Additional diagnostic tools may include magnetic resonance imaging (MRI) and angiography to identify AVMs in the brain.
Treatment
Treatment for Wyburn-Mason Syndrome is primarily symptomatic and supportive. Management of the condition may involve a multidisciplinary team of specialists, including ophthalmologists, neurologists, and dermatologists. Surgical intervention may be considered in some cases.
Related Terms
- Arteriovenous malformation (AVM)
- Vascular disorder
- Ophthalmologist
- Neurologist
- Dermatologist
- Magnetic resonance imaging (MRI)
- Angiography
- Port-wine stain
- Seizure
- Headache
- Visual impairment
External links
- Medical encyclopedia article on Wyburn-Mason syndrome
- Wikipedia's article - Wyburn-Mason syndrome
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