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Recurrent seizures in metachromatic leukodystrophy
T Balslev1, M A Cortez, S I Blaser
1Division of Neurology, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Abstract:
The unusual presentation of juvenile onset metachromatic leukodystrophy (MLD) and frequent complex partial seizures in a patient led us to perform a retrospective study of 18 patients with MLD to identify the prevalence and type of recurrent seizures during the first 2 years of the disease. Five of 17 patients (29%) had developed recurrent seizures within 12 months of the onset of symptoms, and one patient was lost to follow-up. By 24 months after onset of symptoms, 5 patients were lost to follow-up, and 6 of the remaining 13 patients (46%) had developed recurrent seizures. In all, 7 patients, 4 with late infantile-onset and 3 with juvenile-onset disease, developed recurrent seizures. Four patients, including 3 with juvenile-onset disease had complex partial seizures. We conclude that recurrent seizures are common in MLD and may occur at any stage of the disease, particularly in patients with juvenile onset. Generalized seizures are more frequent in patients with late infantile-onset, whereas partial seizures are more common in those with juvenile-onset disease.
Insights
Recurrent seizures are common in metachromatic leukodystrophy (MLD), affecting nearly half of patients within two years. Juvenile onset MLD shows a higher prevalence of complex partial seizures.
Area of Science:
- Neurology
- Genetics
- Pediatric Neurology
Background:
- Metachromatic leukodystrophy (MLD) is a rare genetic disorder affecting the central nervous system.
- Seizures are a known complication, but their prevalence and specific types in early MLD are not well-characterized.
Observation:
- A retrospective study analyzed 18 patients with MLD, focusing on seizure development within the first two years of symptom onset.
- Recurrent seizures were observed in 29% of patients within 12 months and 46% within 24 months.
Findings:
- Seven patients developed recurrent seizures, with a higher incidence in juvenile-onset MLD.
- Complex partial seizures were more common in juvenile-onset MLD, while generalized seizures predominated in late infantile-onset MLD.
Implications:
- Recurrent seizures are a significant clinical feature of MLD, occurring across different disease stages.
- Understanding seizure patterns can aid in early diagnosis and management of MLD, especially in juvenile-onset cases.