Sturge–Weber syndrome

Definition

Sturge-Weber syndrome (SWS) is a rare, congenital (present at birth), noninherited disorder characterized by the vascular malformation (birthmark) called a port wine stain, usually seen on an infant's face. Sturge-Weber also is characterized by neurological abnormalities including seizures, weakness on one side of the body, developmental delay, and glaucoma (increased pressure within the eye). Other terms for SWS are: encephalotrigeminal angiomatosis, encephalofacial angiomatosis, or Sturge-Weber-Dimitri syndrome.

Sturge-Weber syndrome is named for the British physicians William A. Sturge (1850–1919), who first described the condition, and Frederick Parkes Weber (1863–1962) who demonstrated its intracranial calcifications.

Description

SWS is a rare congenital disorder whose most apparent indication is a port wine stain on the face that is associated with neurological abnormalities. The port wine stain is a benign tumor just under the surface of the skin, made up of overabundant blood vessels (angiomas). Port wine stain may affect either or both sides of the face and can vary in size. Other neurological abnormalities may be present, including angioma on the brain's surface.

Demographics

The incidence of SWS is estimated at one per 50,000 live births in the United States. No regional or gender differences have been noted. An estimated 13 percent of individuals with SWS will not have the port wine stain. In addition, some children with port wine stain may not have Sturge-Weber syndrome.

Causes and Symptoms

The exact cause and incidence of Sturge-Weber syndrome was as of 2004 not understood. It is not thought to be genetic.

Frequency of Symptoms

A child born with SWS has a higher likelihood of the following clinical signs of the disorder:

• port wine stain: 8–15 percent
• bilateral (both sides) brain involvement: 15 percent
• seizures: 72–93 percent
• hemipareis (weakness on one side of body): 25–56 percent
• hemianopsia (loss of half of the field of vision): 44 percent
• headaches: 44–62 percent
• developmental delay/mental retardation: 50–75 percent
• glaucoma (increased pressure within the eye): 30–71 percent
• choroidal hemangioma (nonmalignant blood vessel tumors in the eye): 40 percent

The following manifestations of SWS may be present:

• Port wine stain: The port wine stain is caused by excess capillaries (tiny blood vessels) just below the skin's surface. It may vary in color, shape, and location on the face. Sometimes the port wine stain covers other parts of the body as well as the face.
• Seizures: Angiomas on the surface of the brain cause seizures in nearly all children with SWS. As the child grows, the affected part of the brain can atrophy (waste away). Deposits of calcium also may occur. This can cause seizures to become more frequent and to last longer.
• Hemipareis (weakness on one side of body): In SWS, this results from frequent seizures.
• Hemianopsia (loss of half of the field of vision): Angiomas can affect the optic nerve, causing blindness in half of the eye.
• Headaches: About one-third of children aged ten years and younger with SWS suffer from migraines.
• Developmental delay/mental retardation: Seizures are responsible for learning difficulties in two out of three children with SWS.
• Glaucoma (increased pressure within the eye): Glaucoma is present in 70 percent of children with SWS whose upper eyelids have port wine stain. Fluid produced within the eye (aqueous humor) cannot exit normally. This leads to increased pressure within the eye and eventual damage to the optic nerve.
• Choroidal hemangioma (nonmalignant blood vessel tumors in the eye): Noncancerous tumors can grow within the eye on the choroid blood vessel, the vessel that nourishes the eye. If the tumor is in the central area of vision, visual function can be affected.

When to Call the Doctor

An infant born with a port wine stain will be immediately evaluated by healthcare staff. In some cases, infants with SWS will not have a port wine stain present at birth. In these cases, suspicion of SWS may not arise until a child has a seizure or other neurological problem.

Diagnosis

Clinical diagnosis of SWS begins with the observation of port wine stain in an infant. The port wine stain may not be obvious in children of color. Not all children with port wine stain will have SWS, however; and some children with SWS will not have port wine stain. In the absence of port wine stain, other neurological abnormalities will help determine the diagnosis. Seizures may be the first symptoms of SWS in a child, usually by the first year. The seizures are usually frequent and may be prolonged. If glaucoma is involved, there may be no symptoms in older children. Infants may avoid bright light as a result of enlarged corneas.

If neurological involvement is suspected, the following tests may be used to help make a diagnosis:

• X ray of the skull to show calcifications (calcium deposits)
• CT scan of the skull to show calcifications, abnormal veins, and brain atrophy
• MRI to show angiomas (benign tumors made up of blood vessels)
• single-photon emission computed tomography to measure blood flow in the brain
• EEG to evaluate seizures

Treatment

Treatment for SWS depends on the disorder involved.

• Port wine stain: Laser treatment is used to lighten or remove port wine stain. Pulsed-dye laser therapy successfully treats port wine stain without significant scarring. Treatment should start as soon as possible. Multiple treatments will be necessary.
• Seizures: Drug therapy may be used to control seizures. However, the seizures often are resistant to treatment. In some cases, early surgical removal of the part of the brain with the abnormal blood vessels may be considered.
• Vision problems: Drug therapy may be used to treat glaucoma. Photodynamic therapy also is used to treat choroidal hemangiomas that affect the eye.
• Headaches: Medications may be taken to treat migraines. Children age two and under should not take aspirin due to the risk of Reye syndrome.
• Developmental delay and learning problems: A wide range of treatment options is available to children with developmental delay and learning problems associated with SWS.
• Hemipareis (weakness on one side of body): Hemipareis can be treated with physical and occupational therapy.

Prognosis

SWS is not a fatal disease. The prognosis for SWS depends on the specific neurological abnormalities present. Some abnormalities associated with SWS may worsen with age. Successful treatment of seizures improves the outlook for children with SWS.

Prevention

There was as of 2004 no known way to prevent SWS. Nothing a parent has done or did not do causes the disorder.

Parental Concerns

The seizures that are often present with SWS can place children in potentially dangerous situations.

See also Seizure disorder.

Resources

Periodicals

Baselga, E. "Sturge-Weber syndrome." Seminars in Cutaneous Medicine and Surgery 23, no. 2 (June 2004): 87–98.

Lam, Samuel, et al. "Practical Considerations in the Treatment of Capillary Vascular Malformations, or Port Wine Stains." Facial Plastic Surgery (2004): 71–6.

Thomas-Sohl, K. A., et al. "Sturge-Weber syndrome: a review." Pediatric Neurology 30 (May 2004): 303–10.

Organizations

American Academy of Dermatology. 930 E. Woodfield Rd., Schaumburg, IL 60168. Web site: www.aad.org/

Children's Hemiplegia and Stroke Association. Suite 305, PMB 149 4101 W. Green Oaks. Arlington, TX 76016. Web site: www.hemikids.org/hemiplegia.htm.

FACES: The National Craniofacial Association. PO Box 11082, Chattanooga, TN 37401. Web site: www.facescranio.org/.

National Association for Rare Disorders. 55 Kenosia Avenue, PO Box 1968, Danbury, CT 06813–1968. Web site: www.rarediseases.org/info/contact.html.

Sturge-Weber Foundation. PO Box 418, Mount Freedom, NJ 07970. Web site: www.sturge-weber.com/.

Web Sites

"NINDS Sturge-Weber Syndrome Information Page." National Institute of Neurological Disorders and Stroke, 2001. Available online at www.ninds.nih.gov/health_and_medical/disorders/sturge_doc.htm (accessed November 30, 2004).

Sturge-Weber Foundation. Available online at www.sturgeweber.com (accessed November 30, 2004).

"Sturge-Weber Syndrome." eMedicine, 2001. Available online at www.emedicine.com/neuro/topic356.htm#section~workup (accessed November 30, 2004).

"Sturge-Weber Syndrome." Epilepsy Action. Available online at www.epilepsy.org.uk/info/sturge.html (accessed November 30, 2004).

[Article by: Christine Kuehn Kelly]

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A congenital syndrome characterized by a port-wine stain nevus in the distribution of the trigeminal nerve, homolateral meningeal angioma with intracranial calcification and neurologic signs, and angioma of the choroid, often with secondary glaucoma. Also called angiophacomatosis, encephalofacial angiomatosis, encephalotrigeminal angiomatosis, Sturge's disease, Sturge-Weber disease.

An encephalofacial angiomatosis characterized by cutaneous facial cerebral angiomatosis, ipsilateral gyriform calcifications of the brain, mental retardation, seizures (epilepsy), contralateral hemiplegia, and ocular involvement. Facial lesions (port-wine stain) may join intraoral angiomas on the buccal mucosa and gingiva.

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).

Contents 1 Symptoms 2 Imaging findings 3 Treatment 4 Prognosis 5 Eponym 6 Foundations 7 References 8 External links 8.1 Pictures

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.^{[clarification needed]} 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
• Another Example.jpg]

v d e Phakomatosis (Q85, 759.5–759.6) Neurofibromatosis Type I · Type II Angiomatosis Sturge–Weber syndrome · Von Hippel–Lindau disease Hamartoma Tuberous sclerosis · Hypothalamic hamartoma (Pallister-Hall syndrome) · Multiple hamartoma syndrome (Proteus syndrome, Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, Lhermitte-Duclos disease) Other Abdallat Davis Farrage syndrome · Ataxia telangiectasia · Incontinentia pigmenti · Peutz–Jeghers syndrome

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