Observational studyDevelopmental medicine and child neurology2025
Seizures in childhood cerebral adrenoleukodystrophy.
Observational study in Developmental medicine and child neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Seizures in childhood cerebral adrenoleukodystrophy: New insights and remaining knowledge gaps.Developmental medicine and child neurology · 2025Article
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Authors and funding
4 authors.
Funding
Abstract
aimTo describe seizure prevalence in childhood cerebral adrenoleukodystrophy (CCALD) and the relationship to disease severity/progression.
methodThis was a retrospective observational cross-sectional study of patients with CCALD at two leukodystrophy centers between 2008 and 2024 compared to patients with X-linked adrenoleukodystrophy (X-ALD) without cerebral lesions. Patients with CCALD were under 18 years old, had genetically confirmed X-ALD, and had brain magnetic resonance imaging (MRI) consistent with CCALD. Statistics included: descriptive values (mean, median, range) and clinical variables compared using Wilcoxon rank-sum tests for patient age, MRI score, functional status, electroencephalogram (EEG) findings, and seizure characteristics.
resultsOf 86 male children with CCALD, 25 (29%) experienced seizures, of whom 22 (88%) received their X-ALD diagnosis after onset of CCALD symptoms, and 45% (10/22) of these were diagnosed directly because of seizure. Seizure severity correlated with worse functional status and MRI/Loes score; no seizures occurred with Loes score less than 6. All reported seizures were motor. In those with seizures with available EEG (n = 15), diffuse slowing was more common than epileptiform discharges (73.3% vs. 26.7% respectively). Of the 53 patients with X-ALD without cerebral involvement, only 5.7% experienced seizures at any age.
interpretationSeizures in CCALD are not uncommon, indicating that X-ALD should be considered for male children presenting with first-time seizure. Seizures and seizure severity increase with advancing disease.
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