Diagnostic pathway and management of first seizures in infants with Sturge–Weber syndrome

Aim Sturge–Weber syndrome (SWS) is a rare neurocutaneous syndrome, frequently associated with pharmaco‐resistant, early‐onset epilepsy. Optimal seizure control is paramount to maximize neurodevelopment. Method A single‐centre case series of 49 infants explored early SWS care. Ninety‐two per cent of children developed seizures aged 0 to 3 years; 55% of cases were before diagnostic magnetic resonance imaging (MRI) or tertiary referral. Delay in SWS diagnosis affected 31% of infants because of a lack of gadolinium enhancement for initial MRI. First seizures were frequently prolonged, with phenytoin administration necessary in 46%. Presymptomatic antiseizure medication prophylaxis ( n = 8/49) decreased seizure burden. No patients on antiseizure medication prophylaxis suffered status epilepticus for longer than 30 minutes, and half of them ( n = 4) had not developed seizures at last follow‐up (aged 2–10 years). Results A parental survey enabled further service evaluation. Eighty‐three per cent of parents considered local clinicians' understanding of SWS inadequate: 61% felt insufficiently informed about SWS and 81% received no epilepsy education before seizures. Interpretation To overcome the identified shortfalls, guidelines towards improving and standardizing SWS management are proposed.