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Sturge-Weber syndrome

Expert Q&A

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Updated February 10, 2010

Q. My daughter has port wine stain on her left arm, underarm and shoulder blade. She also does not move the right side of her face. The MRI came back negative. Any idea what this could be? Roxanne, Stuart, Florida

A. Even though you don't mention a facial port wine stain, the main condition that comes to mind is Sturge Weber Syndrome. According to the National Institutes of Health, Sturge-Weber syndrome is a 'congenital disorder characterized by a vascular birthmark and neurological abnormalities,' which can include:

  • a facial birthmark or port wine stain which is present at birth and usually involves at least one upper eyelid and the forehead
  • excessive blood vessel growth on the surface of the brain (angiomas)
  • seizures, which often start before one year of age and may worsen with age
  • a weakening or loss of use of the side of the body opposite the port wine stain (hemiparesis)
  • developmental delays
  • glaucoma
Although rare, it is possible to have Sturge-Weber syndrome without a facial port wine stain.

Keep in mind that both congenital facial paralysis and port wine stains are not rare, so they may be totally unrelated too.

At this point, even with the normal MRI (especially if it wasn't done with IV contrast), you might want to get her evaluated by a Pediatric Neurologist that has experience treating children with Sturge-Weber syndrome. If you have already done that and they don't believe that Sturge-Weber syndrome is a possibility, then you might try the links below to get help figuring out what else might be causing her symptoms:

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