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Diagnosis of Lafora disease by skin biopsy
Author(s) -
White J. W.,
Gomez M. R.
Publication year - 1988
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/j.1600-0560.1988.tb00538.x
Subject(s) - lafora disease , pathology , eccrine sweat gland , myoclonus , biopsy , skin biopsy , medicine , progressive myoclonus epilepsy , stain , brain biopsy , staining , sweat gland , sweat , disease , biology , biochemistry , phosphorylation , psychiatry , phosphatase
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 polygkicosan bodies, or Lafora bodies, in the peripheral portion of the eccrinc sweat gland duct. Exclusive use of the periodic acid‐Schifl stain is recommended for demonstrating these diagnostic inclusions. Electron microscopy reveals fine pale‐staining filaments, line clark‐slaining granules, and dark‐rimmed vacuoles within these non‐inembranc‐bound inclusions. Skin biopsy is the preferred method of confirming the diagnosis of Lafora disease.