Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report two adult patients whose liver biopsy specimens revealed numerous ground-glass hepatocytes due to inclusions resembling Lafora bodies. The inclusions were large, intracytoplasmic, pale, eosinophilic and kidney-shaped and were periodic acid-Schiff positive and HBsAg negative. Immunoperoxidase studies showed that the inclusions were positive for cytokeratins and alpha 1-antitrypsin. In case 1, the inclusions were not membrane-bound and consisted of secondary lysosomes and degenerate organelles including rough and smooth endoplasmic reticulum. In case 2, electronmicroscopy showed the inclusions were not membrane-bound, but consisted of dense granules, fibrils and vacuoles, with appearances very similar to Lafora bodies. Neither patient had myoclonus or epilepsy. Electronmicroscopy is important in differentiating the type of Lafora body like inclusions found in liver biopsies.
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PMID:Ground-glass hepatocytes with Lafora body like inclusions--histochemical, immunohistochemical and electronmicroscopic characterization. 217 43