Wyburn-Mason syndrome

Alternate names

Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes; Wyburn Mason syndrome; Bonnet-Decaume-Blanc syndrome; CAMS2; Cerebrofacial arteriovenous metameric syndrome type 2

Definition

Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM).

Summary

• Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown.
• The disorder is named for the investigator (Dr. R. Wyburn-Mason) who extensively described the disease entity in 1943.
• Wyburn-Mason syndrome is sometimes grouped with the phakomatoses or neurocutaneous syndromes.

Epidemiology

• Wyburn-Mason syndrome is an extremely rare disorder that appears to affect males and females in equal numbers.
• The incidence or prevalence rates of Wyburn-Mason syndrome in the general population are unknown.

Cause

• The exact cause of Wyburn-Mason syndrome is unknown.
• It is considered a developmental abnormality characterized by arteriovenous malformations.
• No specific genetic abnormality or hereditary tendencies have been identified.
• The specific, underlying mechanism(s) that cause the vascular malformations in Wyburn-Mason syndrome are not known.
• However, they are thought to result from abnormalities of blood vessel development during embryonic or fetal growth.

Signs and symptoms

• The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs.
• Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Dilatation(Wider than typical opening or gap)
• Peripheral arteriovenous fistula
• Retinal vascular malformation
• Vascular skin abnormality

30%-79% of people have these symptoms

• Cerebral palsy
• Facial asymmetry(Asymmetry of face)
• Global developmental delay
• Headache(Headaches)
• Hemiparesis(Weakness of one side of body)
• Intellectual disability(Mental deficiency)
• Seizure
• Visual loss(Loss of vision)

5%-29% of people have these symptoms

• Abnormality of eye movement(Abnormal eye movement)
• Cerebral hemorrhage(Bleeding in brain)
• Dysarthria(Difficulty articulating speech)
• Epistaxis(Bloody nose)
• Gingival bleeding(Bleeding gums)
• Hearing impairment(Deafness)
• Iris hypopigmentation(Light eye color)
• Irritability(Irritable)
• Loss of consciousness(Passing out)
• Nausea and vomiting
• Proptosis(Bulging eye)
• Subarachnoid hemorrhage
• Tinnitus(Ringing in ears)

Diagnosis

• A diagnosis of Wyburn-Mason syndrome may be made based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings, especially ocular findings.
• Imaging studies such as a computed tomography (CT) scan or magnetic resonance imaging (MRI) may be performed to detect potentially dangerous central nervous system (CNS) malformations.
• During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures.
• An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs such as the brain.

Treatment

• No specific treatment for Wyburn-Mason syndrome exists.
• Treatment is directed toward the specific symptoms that are apparent in each individual.
• Some AVMs may not require treatment, especially retinal lesions which usually remain stable.
• If lesions in the eyes cause bleeding (hemorrhaging) in the retina or the clear, jelly-like substance that fills the middle of the eye (vitreous), laser treatment or the use of extreme cold to destroy abnormal tissue (cryosurgery) may be performed in an attempt to control the bleeding.
• Surgical removal of the vitreous (vitrectomy) has been performed in some cases if bleeding is persistent, although surgery is controversial.

NIH genetic and rare disease info

• NIH info on Wyburn-Mason syndrome

Wyburn-Mason syndrome is a rare disease.

Wyburn-Mason syndrome Resources
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