Sturge-Weber syndrome
Sturge-Weber syndrome is a rare neurological disorder characterized by vascular malformations, primarily affecting the brain and skin. It is associated with a distinct facial birthmark known as a port-wine stain, which typically follows the distribution of the trigeminal nerve. The exact cause of the syndrome remains unknown, but it may involve excess blood vessels persisting from embryonic development. Individuals with Sturge-Weber syndrome may experience a range of symptoms, including seizures, developmental disabilities, and eye disorders such as glaucoma, which could lead to vision loss.
Although the condition is chronic, many patients have mild symptoms that do not significantly impact their lifespan. Treatment options vary depending on the severity of the symptoms and may include laser therapy for cosmetic improvement, medications for seizure control, and surgery in more severe cases. Regular eye examinations and psychological support are also essential for managing the condition. Sturge-Weber syndrome is estimated to affect between one in twenty thousand and one in fifty thousand people, highlighting its rarity and the need for continued research into its causes and treatment options.
Sturge-Weber syndrome
ALSO KNOWN AS: Sturge-Weber-Dimitri syndrome, encephelotrigeminal angiomatosis
ANATOMY OR SYSTEM AFFECTED: Blood, blood vessels, brain, circulatory system, eyes, head, nerves, nervous system, skin
DEFINITION: A disorder associated with partial facial disfigurement which involves vascular accumulations that affect the central nervous system.
CAUSES: Unknown; possibly excess blood vessels remaining from embryonic development
SYMPTOMS: Port-wine stain, seizures, developmental disabilities, eye disorders (swelling, glaucoma, possible blindness), sometimes partial paralysis
DURATION: Chronic
TREATMENTS: Depends on severity; may include cosmetic correction, including laser removal), psychological counseling, anticonvulsive medications, surgery to remove damaged tissues
Causes and Symptoms
Although the precise causation of Sturge-Weber syndrome has not been established, medical researchers have found a relationship to excess circulatory vessels remaining from embryonic development. Professionals estimate that approximately 15 percent of newborns with port-wine stains have this syndrome. Patients usually exhibit a facial port-wine stain along the trigeminal nerve on one side. The size of the birthmark and the area covered depend on which, and how many, of the three branches of this nerve—found in the brow, cheek, and jaw—are affected by excessive delivering blood to the skin. Sometimes, the birthmark appears on other parts of the body or the entire head. Infrequently, patients with this syndrome do not have a port-wine stain.
Neurological activity is often disrupted and slowed in these patients because of the massing of circulatory vessels on the adjacent to the port-wine stain. As a result, patients sometimes experience calcium buildup in brain tissues and epileptic seizures on the side without the birthmark. Approximately half of patients suffer developmental disabilities. Because to the eyes is altered, drainage is sometimes disrupted and pressure intensifies, resulting in swelling, glaucoma, and possible blindness. Partial occasionally accompanies this syndrome.
Treatment and Therapy
Many patients with Sturge-Weber syndrome suffer only facial birthmarks and mild neurological symptoms that do not affect their life span. Lasers can erase port-wine stains, and cosmetics are a less expensive but temporary solution. Psychological counseling can help patients cope with societal reaction to their birthmarks, including bullying and rejection.
Patients whose brains are significantly affected have higher risks. Medications can treat convulsions. In extreme cases, surgery may be required to remove damaged tissues. Medical professionals X-ray patients to assess brain and to locate any tumors. The eyes are examined regularly to detect problems and are treated with medication or surgery as applicable. Physical therapy can strengthen weakened muscles in cases of partial paralysis.
Perspective and Prospects
William Allen Sturge hypothesized in 1879 that a six-year-old patient suffering from seizures had a brain on the same side as her port-wine stain. His peers rejected his theory. By 1901, Siegfried Kalischer verified Sturge’s hypothesis through pathological studies. In 1922, Frederick Parkes Weber used radiography to document calcification inside the craniums of patients with port-wine stains. The next year, Vincente Dimitri added his insights; he is sometimes incorporated into the name of this syndrome. E. Steve Roach described three types of Sturge-Weber syndrome in 1992. His categories are based on trait occurrence and extent.
Established in 1987, the Sturge-Weber Foundation has created a registry of individuals with this syndrome. In the early twenty-first century, researchers continued their investigations of possible genetic factors in this syndrome. The condition is estimated to affect one in twenty thousand to fifty thousand people.
Bibliography:
Ball, Karen Fisher, ed. Sturge-Weber Syndrome: The Resource Guide for a Reason, a Season, and a Lifetime. Mt. Freedom, N.J.: Sturge-Weber Foundation, 2003.
Bodensteiner, John B., and E. Steve Roach, eds. Sturge-Weber Syndrome. Mt. Freedom, N.J.: Sturge-Weber Foundation, 1999.
Guttman, Cheryl. “Location of Port-Wine Stains May Signal Syndromal Associations.” Dermatology Times 19, no. 7 (July, 1998): 25.
"NINDS Sturge-Weber Syndrome Information Page." National Institute of Neurological Disorders and Stroke, October 4, 2011.
Piram, Maryam, et al. "Sturge-Weber Syndrome in Patients with Facial Port-Wine Stain. Pediatric Dermatology 29, no. 1 (January/February 2012): 32–37.
Sturge-Weber Foundation. http://www.sturge-weber.org.
"Sturge-Weber Syndrome." MedlinePlus, 1 Oct. 2018, medlineplus.gov/genetics/condition/sturge-weber-syndrome/#frequency. Accessed 8 Apr. 2024.