Seizures in childhood cerebral adrenoleukodystrophy.
Nicole Page, Amanda M Nagy, Florian S Eichler and 1 others
PMID 40197597WHAT IT FOUND
Seizures occurred in 29% of boys with childhood cerebral adrenoleukodystrophy, linked to higher MRI lesion scores and functional impairment.
No seizures occurred with a Loes score under 6. X-ALD should be considered in boys presenting with first-time seizures.
Key findings
01Seizures were five-fold more common in male children with CCALD (29%) than in adult males without cerebral involvement (5.6%).
02Individuals with CCALD and seizures had significantly higher Loes scores (median 15.5) than those without seizures (median 4).
03No patients with a Loes score less than 6 had seizures, while 72.7% of those with scores over 20 did.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The study is retrospective and relies on medical records, which may be incomplete. Seizure history in adult controls may be inaccurate due to recall bias. A significant portion of the adult control group (34%) was seen only once, potentially missing later development of cerebral disease. The sample size is relatively small, particularly for analyzing factors contributing to seizure risk beyond lesion severity. EEG data was missing for many patients, limiting the ability to characterize electrographic features fully.
Declared interests
The authors declare no conflicts of interest.
The easy way to misread this
Do not assume that a normal EEG rules out seizures in boys with CCALD, as most abnormal EEGs in this study showed only diffuse slowing without epileptiform discharges. Diagnosis should rely on clinical description rather than EEG results.
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