Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome

Area of Science:

• Neurology
• Radiology
• Pediatrics

Background:

• Sturge-Weber syndrome (SWS) is a congenital disorder characterized by port-wine birthmarks, neurological abnormalities, and potential for seizures.
• Early identification of seizure risk in SWS is crucial for timely intervention.
• Current understanding of early pathophysiological changes preceding clinical symptoms in SWS is limited.

Purpose of the Study:

• To identify early pathophysiological changes in Sturge-Weber syndrome (SWS) before clinical symptom onset.
• To evaluate apparent diffusion coefficient (ADC) maps as a potential early biomarker for seizure risk in SWS patients.

Main Methods:

• Prospective cross-sectional study involving quantitative ADC analysis in infants with SWS.
• Inclusion criteria: port-wine birthmark, brain MRI showing leptomeningeal capillary malformation (LCM) and enlarged deep medullary veins, absence of seizures.
• Utilized age-specific normative ADC atlases to identify and quantify ADC abnormalities.

Main Results:

• Eight infants with SWS (age 40 days to 9 months) were studied.
• One patient with LCM, venous anomaly, and normal ADC values did not develop seizures.
• Seven patients with significantly abnormal ADC values developed seizures, with one experiencing late onset.

Conclusions:

• Widespread decreased ADC values in the affected hemisphere of infants with SWS correlate with later seizure onset.
• Quantitative ADC mapping may serve as an early indicator of seizure risk in SWS.
• Larger prospective studies are required to establish the sensitivity and specificity of ADC maps for predicting seizures in SWS.