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Lafora Disease: Report of a Rare Entity
Younis Al Mufargi1, Asim Qureshi2, Abdullah Al Asmi3
1Neurology/Medicine, Sultan Qaboos University, Muscat, OMN.
Cureus
|March 7, 2020
Summary
Lafora disease is a rare genetic disorder affecting glycogen metabolism, causing neurodegeneration. This case highlights typical findings in progressive myoclonus epilepsy, confirmed by skin biopsy and genetic testing.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- Lafora disease is a rare, autosomal recessive genetic disorder of glycogen metabolism.
- It is characterized by cytoplasmic inclusion bodies (Lafora bodies) in various tissues.
- The disease manifests as a neurodegenerative disorder, impacting cerebral cortical neuron development.
Observation:
- A case of Lafora disease presented with progressive myoclonus epilepsy (PME).
- The patient underwent investigation at our center.
- Typical histological findings were observed on skin biopsy.
Findings:
- The patient was diagnosed with Lafora disease.
- Genetic testing confirmed a pathogenic mutation associated with the disease.
- Histological examination of the skin biopsy revealed characteristic Lafora bodies.
Implications:
- This case reinforces the diagnostic criteria for Lafora disease.
- Early diagnosis through skin biopsy and genetic testing is crucial for managing PME.
- Understanding the presentation aids in recognizing this rare neurodegenerative condition.
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