Port-Wine Birthmark and a Normal Brain MRI: Can We Rule Out Sturge-Weber Syndrome Brain Involvement?

NOVEMBER 14, 2014

Question: My newborn has a port-wine birthmark on the forehead and the doctors are concerned about Sturge-Weber syndrome. The MRI of the brain is normal. Does that mean everything is OK and there is no brain involvement?

Response: Unfortunately, this is not the case. An MRI of the brain in the newborn period, over even in the first several months of life can be normal, but this does not exclude Sturge-Weber syndrome brain involvement. A child with a normal early MRI can later develop symptoms, and at that point have an abnormal MRI diagnostic of Sturge-Weber syndrome.

We don’t know exactly why this is, but studies suggest that blood flow decreases over the first year of life in babies with Sturge-Weber syndrome. As the blood flow decreases in the involved brain areas with impaired venous drainage, the contrast used in MRIs can be better seen in the abnormal blood vessels.

Because of this issue, Sturge-Weber syndrome brain involvement cannot be absolutely excluded with early imaging. An MRI with and without contrast done after a year of age is a good time to evaluate for brain involvement in asymptomatic infants with a facial port-wine birthmark who are at risk for Sturge-Weber syndrome. As brain imaging continues to improve, this issue will need to be reassessed.

This only applies to otherwise normal infants. If an infant develops a visual gaze preference, early handedness, has abnormal development, an abnormal exam or an abnormal EEG, then the timing of the brain MRI should be sooner.

Check back weekly for new posts and up-to-date information from Sturge-Weber syndrome expert Dr. Anne Comi.

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