Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy

Background Lafora disease (LD) is a rare, autosomal recessive progressive myoclonic epilepsy caused by mutations in EPM2A or EPM2B. It is characterized by abnormal glycogen metabolism leading to poly-glucosan deposits, known as Lafora bodies, in various tissues. LD typically manifests during adolesc...

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Bibliographic Details
Published in:BMC neurology Vol. 25; no. 1; pp. 230 - 6
Main Authors: Naderian, Ramtin, Vafaeian, Farzane, Hoseini, Seyyed Mohamad, Sanami, Samira
Format: Journal Article
Language:English
Published: London BioMed Central 29.05.2025
BioMed Central Ltd
Springer Nature B.V
BMC
Subjects:
Adolescence
Adolescent
Ataxia
Biopsy
Case Report
Case studies
Child development
Cognitive ability
Convulsions & seizures
Dementia
Diagnosis
Disorders of consciousness: understanding the spectrum to focus treatment
EEG
Electroencephalography
Epilepsy
EPM2A mutation
Exocrine glands
Genes
Genetic counseling
Genetic disorders
Genetic screening
Genetic testing
Genotype & phenotype
Glycogen
Humans
Lafora diseas
Lafora Disease - complications
Lafora Disease - diagnosis
Lafora Disease - genetics
Lafora Disease - physiopathology
Magnetic resonance imaging
Male
Medicine
Medicine & Public Health
Metformin
Mutation
Myoclonic Epilepsies, Progressive - diagnosis
Myoclonic Epilepsies, Progressive - genetics
Myoclonic epilepsy
Neurochemistry
Neurological decline
Neurology
Neurosurgery
Paralysis
Patients
Phenobarbital
Progressive myoclonic epilepsy
Protein Tyrosine Phosphatases, Non-Receptor - genetics
Quality of life
Rare diseases
Refractory epilepsy
Seizures
Symptom management
Ubiquitin-Protein Ligases - genetics
Zonisamide
Iran
Refractory epilepsy
Neurological decline
Lafora diseas
Progressive myoclonic epilepsy
EPM2A mutation
ISSN:1471-2377, 1471-2377
Online Access:Get full text
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Description
Summary:Background Lafora disease (LD) is a rare, autosomal recessive progressive myoclonic epilepsy caused by mutations in EPM2A or EPM2B. It is characterized by abnormal glycogen metabolism leading to poly-glucosan deposits, known as Lafora bodies, in various tissues. LD typically manifests during adolescence with progressive neurological decline, including myoclonic seizures, cognitive impairment, and ataxia. Early diagnosis is critical for symptom management, yet the disease remains challenging to treat due to its refractory nature. Case presentation We report the case of a 15-year-old male who initially presented with tonic-clonic and myoclonic seizures, bilateral lower limb paralysis, and hand tremors. Despite normal initial imaging findings, subsequent clinical progression raised suspicion for progressive myoclonic epilepsy. Genetic testing identified a homozygous pathogenic variant in EPM2A, confirming the diagnosis of LD. electroencephalogram (EEG) findings evolved over time, showing generalized spikes, poly-spikes, and spike-wave complexes on a slow background, consistent with advanced LD. The patient’s seizures proved refractory to standard anti-epileptic drugs, necessitating the addition of phenobarbital, metformin, and zonisamide, which eventually achieved partial seizure control. Family genetic screening identified heterozygous carriers without clinical symptoms, emphasizing the need for genetic counseling. Conclusions This case highlights the diagnostic challenges of LD, particularly in its early stages when clinical and imaging findings may be nonspecific. The report underscores the importance of genetic testing in confirming the diagnosis and tailoring management strategies. Despite limited treatment options, individualized multi-drug regimens may help achieve partial symptom control. Early recognition and comprehensive management, including family counseling, are essential in improving quality of life for patients and their families.
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ISSN:1471-2377
1471-2377
DOI:10.1186/s12883-025-04253-x