Sturge–Weber syndrome

Sturge–Weber syndrome
Classification and external resources
CT scan of Sturge-Weber syndrome
ICD-10	Q85.8
ICD-9	759.6
OMIM	185300
DiseasesDB	12572
eMedicine	neuro/356
MeSH	D013341

Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a 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 characterized by proliferation of arteries of the brain, resulting in multiple angiomas that occur on the same side as the physical signs described above. As a consequence, arteriovenous malformations often form. Normally, only one side of the head is affected.

Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology).

Symptoms

Sturge–Weber syndrome is manifested 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 ophthalmic branch of the trigeminal nerve, just under the surface of the face. There is also malformation of blood vessels in the pia mater overlying the brain on the same side of the head as the birthmark. This causes calcification of tissue and loss of nerve cells in the cerebral cortex. 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; about 50% will have glaucoma (optic neuropathy often associated with increased intraocular pressure), 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.

Imaging findings

CT and MRI are most often used to identify intracranial abnormalities. The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region ^[1]

Treatment

Treatment for Sturge–Weber syndrome is symptomatic.Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Doctors recommend early monitoring for glaucoma, and surgery may be performed on more serious cases. When one side of the brain is affected and anticonvulsants prove ineffective, the standard treatment is neurosurgery to remove or disconnect the affected part of the brain (hemispherectomy). Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with mental retardation or developmental delays, but there is no complete treatment for the delays. Brain surgery involving removing the portion of the brain that is affected by the disorder can be successful in controlling the seizures so that the patient has only a few seizures that are much less intense than pre-surgery. Surgeons may also opt to "switch-off" the affected side of the brain.^[2]

Prognosis

Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment.

Eponym

It is named for William Allen Sturge and Frederick Parkes Weber.^[3][4][5]

Foundations

The Sturge-Weber Foundation's (The SWF) international mission is to improve the quality of life and care for people with Sturge–Weber syndrome and associated Port Wine Birthmark conditions. It supports them with education, advocacy, and research to promote effective management and awareness. The SWF was founded by Kirk and Karen Ball, who began searching for answers after their daughter was diagnosed with Sturge-Weber Syndrome at birth. The SWF was incorporated in the USA in 1987 as an International 501(c)(3) non-profit organization. In 1992, the mission was expanded to include individuals with capillary vascular birthmarks, Klippel Trenaunay (KT) and Port Wine Birthmarks. For more information regarding the Sturge-Weber Foundation or Sturge-Weber Syndrome please visit our website.

The Hemispherectomy Foundation was formed in 2008 to assist families with children who have Sturge-Weber Syndrome and other conditions that require hemispherectomy.^[6]

References

1. ^ "Sturge-Weber syndrome: Radiopaedia.org". http://radiopaedia.org/articles/sturge-weber-syndrome-1. 
2. ^ "Norfolk girl recovers after half of brain 'switched off'". BBC News. 2011-05-20. http://www.bbc.co.uk/news/uk-england-13471262. 
3. ^ synd/1764 at Who Named It?
4. ^ Sturge WA (1879). "A case of partial epilepsy, apparently due to a lesion of one of the vasomotor centres of the brain". Transactions of the Clinical Society of London 12: 162. 
5. ^ Weber FP (1922). "Right-sided hemi-hypertrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain, revealed by radiograms". Journal of Neurology and Psychopathology (London) 3: 134–9. 
6. ^ "The Community News". http://www.community-news.com/node/3302. Retrieved 2009-02-25. ^{[dead link]}

External links

• sturge_weber at NINDS
• The Sturge-Weber Foundation
• Sturge-Weber.org.uk
• Sturge-Weber Syndrome Community

Pictures

• Greenwood M, Meechan JG (July 2003). "General medicine and surgery for dental practitioners Part 4: Neurological disorders". Br Dent J 195 (1): 19–25. doi:10.1038/sj.bdj.4810275. PMID 12856021. "
  Fig. 2 A patient with Sturge Weber Syndrome" 
• Legs at about.com