Liver & intrahepatic bile ducts

Metabolic diseases

Lafora disease



Topic Completed: 1 August 2015

Minor changes: 24 June 2021

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

Nat Pernick, M.D.
Page views in 2021 to date: 358
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)
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

PASD

PASD

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