Gourt > Health > Conditions and Diseases > Genetic Disorders > Sturge Weber Syndrome
Sturge-Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is an extremely rare congenital neurological and skin disorder. It is one of the phakomatoses, and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma. It is caused by an arteriovenous malformation that occurs in the cerebrum of the brain on the same side as the physical signs described above. Normally, only one side of the head is affected.
It is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber does not have a hereditary tendency but occurs sporadically.
Symptoms
Sturge-Weber syndrome is indicated at birth by seizures accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple, and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. Sturge-Weber syndrome is also accompanied by calcification of tissue and loss of nerve cells in the cerebral cortex of the brain on the same side of the body as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark, and vary in severity. There may be muscle weakness on the same side. Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye), which can be present at birth or develop later. Increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). Sturge-Weber syndrome rarely affects other body organs. More on [ Sturge-Weber syndrome ]
Neoplasms :: Neurological Disorders
Rare Disorders :: Conditions and Diseases
From Sumer Sethi,s R Sturge Weber Syndrome With Arachnoid Cyst-CT: Sturge-Weber syndrome is one of the neurocutaneo... http://bit.ly/80l38t
sumersethi (Sumer Sethi) Wed, 16 Dec 2009 11:47:24 -0000
From Sumer Sethi,s R Sturge Weber Syndrome With Arachnoid Cyst-CT: Sturge-Weber syndrome is one of the neurocutaneo... http://bit.ly/80l38t
NORD: Sturge Weber Syndrome - Offers a list of synonyms, a general discussion and further resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
Sturge-Weber Syndrome Center - Clinical center dedicated to the treatment and study of SWS at Johns Hopkins Hospital in Baltimore. Find disease information, diagnosing, and treatment as well as details about the facility.
Meta Description: [ An overview of the Sturge-Weber Syndrome Center at Johns Hopkins ]
Sturge-Weber Syndrome Community - Organization for individuals and families affected by SWS.
Meta Description: [ The Sturge-Weber Syndrome Community provides information, resources, and support to those living with Sturge-Weber Syndrome. ]
The Sturge-Weber Foundation - A support site for individuals and professionals dealing with Sturge-Weber syndrome, port-wine stains and Klippel Trenaunay. The Foundation acts as clearing house for information and a focus for research.
Meta Description: [ The Sturge-Weber Foundation assists individuals with port wine stain birthmark, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, seizures and glaucoma. ]
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