Document Detail

Discordant light microscopic, electron microscopic, and in vitro contracture study findings in a family with central core disease.
MedLine Citation:
PMID:  9323448     Owner:  NLM     Status:  MEDLINE    
We report a family that was referred to our laboratory after a fatal malignant hyperthermia (MH) accident during general anesthesia. Postmortem study of different muscles of the proband pointed retrospectively to the presence of central core disease (CCD). Of the 8 family members investigated by histology and in vitro contracture testing (IVCT) 5 were found to be MH-susceptible. Neurological examination was completely normal. Histologically, these 5 patients showed a highly variable proportion (6-89%) of cores in type 1 fibers on light microscopy. In 3 patients definite central cores were found, in 1 patient multicore disease was diagnosed, and 1 patients presented with a mixed central/paracentral form. Electron microscopy could detect cores in only 4 out of 5 patients. These results demonstrate the difficulty to diagnose central or multicore disease and suggest that mixed forms within the same family may occur. The one histologically dubious patient in this family shows that the most sensitive test for the diagnosis of this myopathy might be the IVCT.
H De Cauwer; L Heytens; U Lübke; C Ceuterick; J J Martin
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Publication Detail:
Type:  In Vitro; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical neuropathology     Volume:  16     ISSN:  0722-5091     ISO Abbreviation:  Clin. Neuropathol.     Publication Date:    1997 Sep-Oct
Date Detail:
Created Date:  1997-11-05     Completed Date:  1997-11-05     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8214420     Medline TA:  Clin Neuropathol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  237-42     Citation Subset:  IM    
Department of Intensive Care in Collaboration, Born-Bunge Foundation, University of Antwerp (U.I.A), Belgium.
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MeSH Terms
Malignant Hyperthermia / pathology
Microscopy, Electron
Muscle Contraction / physiology*
Muscle Fibers, Skeletal / ultrastructure*
Myopathies, Nemaline / genetics,  pathology*,  physiopathology

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