Sturge Weber Syndrome (SWS)

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Registered: 03-06-1998
Sturge Weber Syndrome (SWS)
Wed, 10-06-2010 - 7:20am

Sturge Weber Syndrome..... Sturge-Weber Syndrome The Way I Understand It By "mommylamb"

Sturge-Weber Syndrome is a rare complex progressive disorder associated with a facial port wine stain with no known cause at this time. The marker for Sturge-Weber Syndrome is a facial port wine stain of any size involving the upper eyelid, the forehead or both. (V1 distribution ~ 5th cranial nerve/first branch of the trigeminal nerve) It is believed that 15-20% of those with a cutaneous port wine stain in this location will actually have intracranial involvement. A range of symptoms associated with this disorder may include abnormalities of the skin, brain, eyes, and other internal organs. Each case of Sturge-Weber Syndrome is unique, however the two essential manifestations for the detection of this disorder includes the above described facial port wine stain and clinical or radiological evidence of leptomeningeal angiomas. (having a similar pws on the brain) In rare instances there is no port wine stain present on the skin.

The need for early diagnosis of those with the marker for the syndrome is controversial among practitioners. Many doctors believe it is financially irresponsible and unnecessary to test for this disease. It is their opinion the test will do nothing to prevent the possible manifestations and therefore a waste of time. Most leading doctors who specialize in this disorder believe a baseline neurological exam along with radiological testing done at a young age is of great use, as well as, the humane thing to do since many of the manifestations do not occur until after the first year of life. It is believed that an early diagnosis is essential and would assist other practitioners who are treating the child. In many cases the child develops normally for the first year or two of life, and then the symptoms suddenly occur without warning. The manifestations vary in degrees of severity and can include, but are not limited to seizures, strokes, calcification, headaches, hemi paresis (weakness or loss of use of the body or limbs), mental retardation, brain atrophy, glaucoma, chorodial hemangioma, protruding eye, developmental delays, behavioral problems, ADHD, and oral complications.

The detection of neurological involvement is usually done using radiological testing that has included x-rays, CT scans, MRI with contrast, and an EEG, which records brain wave activity. The test of choice to rule out Sturge-Weber Syndrome is an MRI with contrast. The contrast is important and a must because the leptomeningeal angiomas could be missed without it. The MRI with contrast is used to detect "soft" tissue problems like abnormal blood vessels. The MRI can also detect atrophy and point to voids, which in turn could be calcification. If these voids are present then the doctor could request a CT scan to show for certain that calcification exists. Even with the MRI with contrast, the diagnosis cannot be 100% when the child is under the age of 1. The vessels are so tiny and things can be missed. However, it is a good indication the child does not have this syndrome if the MRI with contrast looks clear at an early age as the majority do show up early with this type of testing. I have been told that a clear MRI with contrast before the age of one reduces the chances to only 2% of actually having the syndrome, and if symptoms did occur later in life the case would most likely be mild.

A CT scan at birth or shortly after does not always rule out Sturge-Weber Syndrome. The CT scan detects "hard" tissues like bone or calcification and does not detect the culprit of brain involvement, leptomeningeal angiomas. I have been told that calcification is not always present at birth or in all cases of Sturge-Weber Syndrome. If your child was given a CT scan, you may wish to ask for an MRI with contrast. Like the CT scan, standard x-rays are not as effective in the detection of Sturge-Weber syndrome and not widely used today. EEG's are normally used when there is evidence of possible seizure activity.The news that a newborn child is at risk for such a rare syndrome can be devastating to new parents. It is good to remember that this syndrome is rare and is believed to affect only 15-20% of all those with a port-wine stain located on the upper eyelid and/or the forehead (V1). One should remember, the fact that a child has leptomeningeal angiomas present does not mean the child will have seizures, strokes, mental retardation or any other symptom of this syndrome. The outcome and degree of manifestations cannot be predicted. Therefore my recommendation as a parent who has been through this is to educate yourself, find a knowledgeable doctor who will test and support your child, and just love and enjoy your new baby!

A good source to get more information about this syndrome is through the Sturge-Weber Foundation. http://www.sturge-weber.com