Abstract
Lafora disease is a rare, genetic, glycogen metabolism disorder inherited as autosomal recessive characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin. Lafora disease presents as a neurodegenerative disorder that causes impairment in the development of cerebral cortical neurons. We present here a case of Lafora disease that presented with progressive myoclonus epilepsy (PME) and investigated at our center. She was diagnosed to have Lafora disease with typical histological findings on skin biopsy and was found to be positive for the pathogenic mutation on genetic testing.
Highlights
Lafora disease is rare worldwide; has a higher incidence among children and adolescents of positive ancestry
Lafora disease presents as a neurodegenerative disorder that causes impairment in the development of cerebral cortical neurons
We present here a case of Lafora disease that presented with progressive myoclonus epilepsy (PME) and investigated at our center
Summary
Lafora disease is rare worldwide; has a higher incidence among children and adolescents of positive ancestry. Lafora disease presents as a neurodegenerative disorder that causes impairment in the development of cerebral cortical neurons It is rare, progressive, fatal myoclonic epilepsy transmitted in an autosomal recessive pattern due to mutation of the EPM2A gene encoding laforin or NHLRC1/EPM2B [1]. In the absence of either laforin or malin function, long glucose chains in specific glycogen molecules extrude water, form double helices and drive precipitation of those molecules, which over time accumulate into Lafora bodies. It is characterized clinically by the triad of seizures, myoclonus, and dementia [3]. The genetic testing confirmed the diagnosis of Lafora disease with a positive mutation on the NHLRC1 gene
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