Epilepsja o wczesnym początku i wrodzone zaburzenia metabolizmu: badanie retrospektywne dużej grupy dzieci
Early-onset epilepsy and inborn errors of metabolism: A large retrospective pediatric cohort
W skrócie
Badanie wykazało, że wrodzone zaburzenia metabolizmu (problemy z procesami chemicznymi w organizmie) są niedocenianą przyczyną epilepsji u dzieci i powinny być zawsze brane pod uwagę, szczególnie gdy ataki drgawek zaczynają się w pierwszych trzech latach życia. W badaniu prawie połowa dzieci ze zdiagnozowanym zaburzeniem metabolicznym miała oporne na leki drgawki, a średnia czasu do postawienia prawidłowej diagnozy przekraczała 3,5 roku. Wczesne rozpoznanie jest ważne, ponieważ istnieją specjalistyczne leczenia mogące znacznie zmienić przebieg choroby.
Oryginalny abstract (angielski)
BACKGROUND: Inborn errors of metabolism (IEM) are an under-recognised cause of childhood epilepsy. Early diagnosis is critical because specific treatments can substantially alter the disease course. METHODS: We performed a retrospective study on 21,072 children evaluated for epilepsy in two Child Neurology referral centres in Eastern Sicily (i.e. Messina, Catania, and Enna) between January 2001 and December 2025. Medical records were reviewed to identify patients with a confirmed IEM diagnosis. Clinical, electrophysiological, neuroimaging, and treatment data were collected and analysed. RESULTS: Fifty-seven children (0.27%) had a co-diagnosis of epilepsy and IEM (28 males, 29 females). Lysosomal storage disorders were the most common category (31.6%), followed by aminoacidopathies (22.8%), mitochondrial disorders (15.8%), congenital disorders of glycosylation (CDG, 12.3%), and organic acidaemias (7.0%). Seizure onset occurred before the age of three years in 83.3% of IEM cases, compared with 27.6% of children with non-metabolic epilepsy (OR 12.3; 95% CI 6.2-24.4; p < 0.001). Diagnostic delay exceeded 3.5 years from first seizure in half the cohort. Approximately 50% of patients showed drug-resistant epilepsy despite multi-drug anti-seizure medication therapy. CONCLUSIONS: IEM should be systematically considered in any child presenting with epilepsy, particularly when onset occurs in the first three years of life. A structured stepwise diagnostic approach can substantially reduce diagnostic delay and facilitate access to disease-specific therapies.