Symptoms and Effects of Wyburn-Mason Syndrome

What would you do if you knew your baby was going to be born with a severe syndrome that is going to greatly reduce their lifespan? This is every parent's nightmare and for the parents of children with Wyburn-Mason syndrome this is their reality.

Wyburn-Mason syndrome is a rare, genetic congenital disorder that is characterized by arteriovenous malformations in the central nervous system and the retina. These malformations affect the visual pathways, the midbrain and subcutaneous facial structures. The syndrome causes pigmented skin blemishes or birthmarks on the face and sometimes mental changes can occur.

It is also known as Bonnet-Dechaume-Blanc syndrome, Cerebroretinal arteriovenous, Aneurysm syndrome, Neuroretinoaniomatosis, Nororetinal angiomatosis, racemose angioma and Bonnet's syndrome I. The syndrome has recently been defined as a brain-retino-facial angiomatosis.

Paul Bonnet first described Wyburn-Mason syndrome in 1937 and Roger Wyburn-Mason described it again in 1943 as a rare congenital disorder that has the Autosomal Dominant Inheritance trait. Autosomal Dominant Inheritance trait means that only one mutated gene is necessary for the child to have the traits of the disease. In cases of Autosomal Dominant Inheritance, a child with a parent who has the mutated gene has a 50% chance of developing the disease.

The symptoms of Wyburn-Mason syndrome are visual disturbance, pigmented facial naevi (birthmarks), pigmented retina, vision loss in one eye, severe headache, vomiting, sudden proptosis or eye bulging, midbrain hemorrhage, rigid neck, loss of consciousness, tinnitus, deafness, aphasia ( a disorder that results from damage to parts of the brain that are responsible for language), cerebellar signs (lack of muscle coordination during voluntary movements, uncoordinated motor skills, inability to perform alternating movements and involuntary left-right eye movements), mental retardation and drooping upper eyelid. The syndrome is present at birth and the onset of symptoms usually occurs before the age of 30. It tends to be frequent in males.

Physicians who are associated with this Wyburn-Mason syndrome are Emile Blanc, a French physician (1901-1952), Paul Bonnet, a French Ophthalmologist (1884-1959), Jean Dechaume, a French physician (1896-1968) and Roger Wyburn-Mason, a British physician (1911-1983).

The prognosis of the syndrome depends on how many malformations there are and where they are located. Indicators of a poor prognosis are an early onset of neurological abnormalities and midbrain hemorrhages. The hemorrhages increase the risk of death dramatically.

Wyburn-Mason syndrome is in a group of disorders known as the phakomatoses and it is considered an extremely rare condition throughout the world. The cause of the syndrome remains unknown.