Table of ContentsDefinition / general | Case reports | Microscopic (histologic) description | Microscopic (histologic) images
Cite this page: Pernick N. Lafora disease. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/liverlaforadisease.html. Accessed October 27th, 2021.
Definition / general
- Autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype / phenotype differences between the two (Epileptic Disord 2016;18:38)
- 17 year old girl with generalized myoclonus epilepsy following a seizure (Case #361)
Microscopic (histologic) description
- Distinctive polyglucosans (abnormal glycogen), also called Lafora bodies, typically found in brain, periportal hepatocytes, skeletal and cardiac myocytes, eccrine duct and apocrine myoepithelial cells of sweat glands (Epileptic Disord 2016;18:38)