Wyburn Mason Syndrome

At a glance

It is a nonhereditary disorder characterized by multiple cerebral arteriovenous shunts present at birth causing intracerebral bleeds and embolic phenomena. The arteriovenous malformations (AVMs) are usually found in the eye (retina and optic nerve) during an ophthalmological examination or radiological (MRI) as they are located in the midbrain. Skin lesions are present in a minority of cases. Seizures, mental changes, hemiparesis, and papilledema may result from the central nervous system (CNS) lesions. The potential for cardiovascular instability and signs of high-flow congestive heart failure must be considered. The exact cause of Wyburn-Mason Syndrome is unknown.

Synonyms

Bonnet-Dechaume-Blanc Syndrome; Cerebroretinal Arteriovenous Aneurysms Syndrome; Racemose Angioma Syndrome.

History

This syndrome was first described by P. Bonnet in 1937 and subsequently extensively described by R. Wyburn-Mason in 1943.

Nature

Wyburn-Mason Syndrome is sometimes listed within a larger group of diseases called phakomatoses or neurocutaneous syndromes. This broad group is characterized by masses or tumors located in the brain, spinal cord, and other organs. In children, skin lesions are also prominent which is rarely observed with the Wyburn-Mason Syndrome.

Incidence

This medical condition is extremely rare. The incidence and prevalence in the general population remains unknown. However, it appears to affect males and females in equal numbers.

Genetic inheritance

It is a nonhereditary arteriovenous malformation of the eye and brain.

Pathophysiology

Multiple arteriovenous malformations of the eye and brain, typically involving the optic disc or retina and the midbrain. The mechanism is unknown.

Diagnosis

Multiple malformations exist both intracerebrally and elsewhere. Retinal malformations are the most common (81% of cases). Neurological symptoms vary among central nervous system lesions based on location. The diagnosis is usually confirmed during investigations using fluorescein angiography, CT scan, and magnetic resonance imaging (MRI). The lesions are located in the midbrain.

Clinical aspects

It is a nonhereditary arteriovenous malformation of the eye and brain, typically involving the optic disc or retina and the midbrain. Skin lesions are present in a minority of cases. Seizures, mental changes, hemiparesis, and papilledema may result from the CNS lesions. The presence of these intracerebral arteriovenous malformations may lead to intracerebral bleeds and embolic phenomena. It is often the first presenting sign. Alternatively, ophthalmic arteriovenous malformations may cause sudden loss of vision as a result of bleeding. Hemorrhage caused by dental extraction overlying a lesion has been reported. Many of these lesions are now treated by embolization in the radiology department.

Precautions before anesthesia

History and examination must elucidate the location of the lesions. A thorough evaluation of the CNS must be ...