Liver & intrahepatic bile ducts

Metabolic diseases

Lafora disease

Last author update: 1 August 2015
Last staff update: 24 June 2021

Copyright: 2002-2022,, Inc.

PubMed Search: Lafora disease[TI] pathology full text[SB]

Nat Pernick, M.D.
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Cite this page: Pernick N. Lafora disease. website. Accessed July 6th, 2022.
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)
Case reports
  • 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)
Microscopic (histologic) images

Case #361

H&E images

PAS+ stain

Images hosted on other servers:
Periportal hepatocytes

Periportal hepatocytes



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