Diagnosis of Lafora disease by skin biopsy.
The Lafora type of progressive myoclonus epilepsy is a rare and fatal familial disease characterized by seizures, myoclonus, and dementia. This diagnosis was confirmed in 2 patients by demonstrating the presence of intracytoplasmic polyglucosan bodies, or Lafora bodies, in the peripheral portion of the eccrine sweat gland duct. Exclusive use of the periodic acid-Schiff stain is recommended for demonstrating these diagnostic inclusions. Electron microscopy reveals fine pale-staining filaments, fine dark-staining granules, and dark-rimmed vacuoles within these non-membrane-bound inclusions. Skin biopsy is the preferred method of confirming the diagnosis of Lafora disease.
White
J W
JW
Department of Dermatology, Mayo Clinic, Rochester, Minnesota.
Gomez
M R
MR
D000293:Adolescent; D001706:Biopsy; D004439:Eccrine Glands / Q000032:analysis / Q000473:pathology*; D004831:Epilepsies, Myoclonic / Q000235:genetics / Q000473:pathology*; D005936:Glucans / Q000032:analysis; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D013194:Staining and Labeling; D013545:Sweat Glands / Q000473:pathology*
D005936:Glucans