Sturge-Weber syndrome (SWS) is a congenital disorder characterized by a facial birthmark and neurological abnormalities. It is the result of a malfunction of the development of blood vessels (excessive growth) over a portion of the brain, usually the back (occipital). The cause of SWS is unknown, however, it has been determined that it is not the result of anything that the mother did or consumed during her pregnancy.
SWS is not hereditary; it is considered to be the result of a spontaneous mutation. It is believed that one cell is affected some time during fetal development, and as that particular cell divides, the error is then duplicated in subsequent cells. If a cell is affected during the early stage of development, then the effects will be more severe, as more cells will carry the error. The incidence of SWS is unknown (and is probably underdiagnosed and underreported), however, the Sturge-Weber Foundation has just under 1,000 families involved with their organization.
Features and Characteristics
- Facial birthmark
- Excessive blood vessel growth on the surface of the brain
- Hemiparesis (weakening or loss of use of one side of the body, opposite the birthmark)
- Delayed motor skills
- Delayed cognitive skills
- Enlargement of the eye
- Internal organ irregularities
- Headaches or migraines
The birthmark, also known as a port wine stain, usually involves one upper eyelid and the forehead, and often times extends down to the cheek, nose, or upper lip. It is flat and varies in color from light pink to deep purple. The birthmark is the result of an overabundance of capillaries just under the surface of the skin.
Seizures develop in almost all individuals with SWS. They are caused by abnormal blood vessels, which lead to abnormal functioning of the brain, thereby, causing epilepsy. They may start at birth or later in life. The seizures usually begin as partial motor seizures involving jerks on one side of the body. The seizures may also evolve into drop attacks, myoclonic seizures, or infantile spasms. Prolonged or frequent seizures usually results in hemiparesis.
Only a qualified physician can diagnose a child with SWS. Supporting tests include a CT-scan and MRI to look for abnormal blood vessels and calcium deposits, an EEG if seizures are suspected, and in some cases, a PET or SPECT scan to analyze all regional activities in the brain.
There is no cure for SWS, so treatment is considered symptomatic. Since seizures affect the childs learning abilities, controlling them is the main focus. Anticonvulsant medication may be used, however, in the more rare cases, surgery may be necessary. It should be noted that the outcome for those who have surgery can be excellent. The port wine stains can either be removed or lightened with laser treatment in children one month of age or older. Glaucoma can be treated with surgery or eye drops.
What to Expect
SWS is not a progressive disease, however, the life expectancy of a child with SWS varies depending on the degree of severity. For many children born with SWS, they can go on to lead full and active lives. If the child is severely affected, the life expectancy may be shortened due to potential illnesses often associated with brain abnormalities, such as lung complications and infections. However, modern medicine, often times, is able to prolong life even when serious complications are present. Also, the severity of the childs seizures effects a childs prognosis. If the seizures are under control, the outcome can be very good.
Most children with SWS have some type of learning disability, ranging from very mild to severe. It has been found that there is a relationship between the severity of seizures and the learning difficulties. In fact, a study performed by Sujansky and Conradi (1995), which included 52 adults with SWS, revealed the following information regarding the development of individuals with and without seizures:
- developmental delay - present in 43% of those with seizures and 0% without seizures;
- emotional and behavioral problems - present in 85% of those with seizures and 58% without seizures;
- special education requirements - necessary for 71% of those with seizures and 0% without seizures;
- employability - applicable to 46% of those with seizures and 48% without seizures.
The study also determined that of those individuals involved in the study, 39% were financially self-sufficient. Furthermore, ten participants produced 20 liveborn offspring; 17 were healthy, and tuberous sclerosis, a cafe-au-lait spot, and a birthmark were found in 1 child each.
If you are interested in meeting other parents and individuals who are involved in raising a child with Sturge-Weber syndrome, the following listserv is available:
Sturge-Weber Syndrome Support List - To subscribe, send a message to email@example.com, leave the subject field blank and type the following in the body of the message: "subscribe SWS Support" (without the quotes) followed by your name.
For more information on Sturge-Weber syndrome, please visit these helpful sites:
- The Sturge-Weber Foundation (USA) http://www.sturge-weber.com
- National Institute of Health http://www.ninds.nih.gov/patients/Disorder/Sturge-Weber/sturge.htm
- The Sturge-Weber Foundation (UK) http://www.eclipse.co.uk/swf-uk
- British Epilepsy Association http://www.epilepsy.org.uk/info/sturgtxt.html
- Sujansky, E.; Conradi, S., Outcome of Sturge-Weber syndrome in 52 adults.Am. J. Med. Genet. 57: 35-45,1995 http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?db=m&form=6&uid=7645596&dopt=r
The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider.
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