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

Autor: Mankel FL; Neurosciences Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; University College London Medical School, London, UK., Papandreou A; Neurosciences Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Developmental Neurosciences, University College London, Great Ormond Street Institute of Child Health, London, UK., Mankad K; Neuroradiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Richardson H; Neurosciences Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Aylett SE; Neurosciences Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Jazyk: angličtina
Zdroj: Developmental medicine and child neurology [Dev Med Child Neurol] 2025 Jan; Vol. 67 (1), pp. 111-118. Date of Electronic Publication: 2024 Jun 12.
DOI: 10.1111/dmcn.15983
Abstrakt: 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.
(© 2024 Mac Keith Press.)
Databáze: MEDLINE
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