Early Magnetic Resonance Imaging as a Screen for Sturge-Weber Syndrome-Related Seizures in Infants With Upper-Facial...

Upper-facial capillary malformation (CM) may be concerning for Sturge-Weber syndrome (SWS). Use of screening magnetic resonance imaging (MRI) for neuroradiographic findings of SWS is controversial. MRI within a few months of life may allow for prompt reassurance, preventive treatments, and avoidance of contrast and sedation. However, false-negative MRI before 1 year of age has been reported. We examined the ability of early MRI to predict seizure development in infants with upper-facial CM.

Infants with forehead or temple CM presenting to the Sturge-Weber Clinic at Boston Children's Hospital from 2012 to 2022 were identified. The records were reviewed for clinical features and for findings from MRI performed before 1 year of age (MRI 1) and repeated around or after 2 years of age (MRI 2). Patients with seizures before MRI 1 or with a diagnosis of nevus simplex were excluded.

Thirty-three patients with forehead or temple CM without seizures before MRI 1 were identified. MRI 1 was abnormal in 20/33 and normal in 13/33. Fourteen of 20 patients with abnormal MRI 1 developed seizures. Of the 13 patients with normal MRI 1, 11 underwent MRI 2. In patients with MRI 2, 3/11 developed SWS-related abnormalities, but none (0/11) developed seizures. The remaining 2 patients with normal MRI 1 also did not develop seizures. Mean follow-up age was 6.1 years (0.83-15 years).

Early, high-quality non-contrast 3 T MRI may screen for seizure development in infants with upper-facial CM.