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Lafora disease: a case report, pathologic and genetic study.
M H Harirchian1, E Esmailee Shandiz, J Turnbull
1Iranian Center of Neurological Research, Tehran University of Medical Science, Tehran, Iran.
Indian Journal of Pathology & Microbiology
|May 31, 2011
Summary
Genetic testing identified a specific mutation in EPM2A, aiding in the diagnosis of Lafora disease (LD). This molecular approach complements histopathology for accurate LD diagnosis.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Lafora disease (LD) is a rare, fatal neurodegenerative disorder characterized by myoclonus, epilepsy, and dementia.
- Diagnostic challenges exist, often relying on histopathological findings which may not be definitive.
- Genetic analysis offers a precise method for diagnosing LD.
Observation:
- A 19-year-old male presented with progressive myoclonic seizures, speech disorder, photosensitivity, visual disturbances, ataxia, and severe dementia.
- Axillary skin biopsy revealed characteristic periodic acid-Schiff positive inclusion bodies in apocrine sweat glands.
- Molecular screening identified a homozygous R241X mutation in the EPM2A gene.
Findings:
- The identified homozygous R241X mutation in EPM2A confirms the diagnosis of Lafora disease.
- Genotyping provides a definitive diagnostic tool for LD, overcoming limitations of histopathology alone.
- This study contributes to understanding mutation distribution in LD patients regionally.
Implications:
- Genetic confirmation of Lafora disease is crucial for accurate diagnosis and patient management.
- Molecular screening broadens diagnostic capabilities for rare genetic neurological disorders.
- Understanding mutation prevalence aids in genetic counseling and research for Lafora disease.
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