Lafora disease: diagnosis by liver biopsy.
We have studied four patients who had a clinical course compatible with Lafora disease. The diagnosis was confirmed in one by the presence of Lafora bodies in central nervous system neurons at autopsy and was supported in another by findings in the cerebral biopsy of a sibling. Our patients had no clinically apparent liver disease, but liver specimens in each instance showed a distinctive histological abnormality, with hepatocytes containing inclusions having a ground-glass appearance. The liver biopsy findings appear to be relatively specific for this disorder and can easily be differentiated from those in other liver diseases.
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002490:Central Nervous System / Q000648:ultrastructure; D004831:Epilepsies, Myoclonic / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008099:Liver / Q000473:pathology* / Q000648:ultrastructure; D008854:Microscopy, Electron; D009928:Organ Specificity