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

Abstract

AbstractAimSturge–Weber syndrome (SWS) is a rare neurocutaneous syndrome, frequently associated with pharmaco‐resistant, early‐onset epilepsy. Optimal seizure control is paramount to maximize neurodevelopment.MethodA 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).ResultsA 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.InterpretationTo overcome the identified shortfalls, guidelines towards improving and standardizing SWS management are proposed.