Progressive myoclonic epilepsy (Unverricht type) with atypical Lafora bodies. Case report.

Details

Serval ID
serval:BIB_64B83790E430
Type
Article: article from journal or magazin.
Collection
Publications
Title
Progressive myoclonic epilepsy (Unverricht type) with atypical Lafora bodies. Case report.
Journal
European Archives of Psychiatry and Neurological Sciences
Author(s)
Grahmann F.C., Janzer R.C., Hecker A., Egli M., Burger P.C.
ISSN
0175-758X[print], 0175-758X[linking]
Publication state
Published
Issued date
1986
Volume
235
Number
4
Pages
259-262
Language
english
Abstract
A patient with advanced progressive myoclonic epilepsy (Unverricht type) with Lafora bodies is presented. Although the clinical history and symptoms were classical, the regional distribution of the cerebral involvement differed from the classical picture: the corpora mamillaria, the nucleus subthalamicus, and the nucleus ruber, which are normally reported to be spared, contained multiple Lafora bodies, whereas the lateral geniculate body, which is usually involved, was intact. The number of inclusions per cell, up to 25, was extremely high and correlated with the marked cortical atrophy and the prolonged clinical course. Using electron microscopy, type I and type II Lafora bodies were found, but the latter lacked the typical filamentous ultrastructure in the peripheral zone. The lack of visceral Lafora bodies in this case suggests that liver, muscle, and skin biopsies, which are widely used for the diagnosis, may lead to false negative results and cannot always replace a stereotactic brain biopsy. The differential diagnosis on polyglucosan bodies is emphasized.
Keywords
Adult, Atrophy, Biopsy, Cerebral Cortex/pathology, Epilepsies, Myoclonic/pathology, Female, Humans, Inclusion Bodies/ultrastructure, Microscopy, Electron, Neurons/ultrastructure
Pubmed
Create date
21/10/2010 8:36
Last modification date
20/08/2019 14:20
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