DOI: 10.4103/pnjb.pnjb_6_25 ISSN: 2709-0450

Progressive Myoclonic Epilepsy in Children: Sharing Experiences from Bangladesh

Anjir Anwar, Md. Mizanur Rahman, Rumana Islam
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Abstract

Background:

Progressive myoclonic epilepsies (PMEs) are rare, inherited neurodegenerative disorders characterized by myoclonic seizures, progressive cognitive decline, and ataxia. Reports from developing countries are limited, although genetic confirmation is crucial for accurate diagnosis and counseling.

Objective:

To describe the clinical, electroencephalographic, neuroimaging, and molecular findings of children diagnosed with different etiologies of PME in Bangladesh.

Methods:

This observational case series included eight children diagnosed with PME between January 2020 and December 2024. Retrospective data on demographics, clinical features, electroencephalographic (EEG), magnetic resonance imaging (MRI), and next-generation sequencing results were analyzed.

Results:

Neuronal ceroid lipofuscinoses (NCLs) were the most common PME subtype ( n = 6), followed by Lafora disease ( n = 1) and Gaucher disease type III ( n = 1). The mean age at onset for NCL was 3.9 ± 0.8 years, and mean age at diagnosis was 5.5 ± 1.6 years. Common manifestations included developmental regression, ataxia, and myoclonic seizures. EEG revealed diffuse background slowing with multifocal epileptiform discharges, while MRI showed cortical and cerebellar atrophy in NCL. Genetic analysis identified homozygous likely pathogenic variants in TPP1, CLN6, and CLN8; a novel EPM2A c.112_153del variant in Lafora disease (validated by sanger sequencing); and a GBA c.835C>G (p.Leu279Val) mutation in Gaucher disease type III.

Conclusion:

NCL was the predominant PME subtype, and identification of a novel EPM2A variant highlight the importance of early genetic testing for precise diagnosis and counseling.

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