Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita

Details

Serval ID
serval:BIB_7C12F0706487
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita
Journal
Pediatric Neurology
Author(s)
Laubscher  B., Janzer  R. C., Krahenbuhl  S., Hirt  L., Deonna  T.
ISSN
0887-8994 (Print)
Publication state
Published
Issued date
10/1997
Peer-reviewed
Oui
Volume
17
Number
3
Pages
249-51
Notes
Case Reports Journal Article --- Old month value: Oct
Abstract
We describe a neonate with hypotonia, weakness, early death owing to respiratory failure, and a severe form of arthrogryposis multiplex congenita. Postmortem studies revealed numerous ragged-red fibers and central nervous system abnormalities consistent with a mitochondrial disease. No NADH:ubiquinone-1 oxidoreductase (complex I) activity could be detected in skeletal muscle. These findings suggest that mitochondrial cytopathies can be associated with arthrogryposis multiplex congenita and should therefore be sought in neonates presenting with severe arthrogryposis.
Keywords
Arthrogryposis/*pathology/physiopathology Humans Infant, Newborn Male Mitochondrial Encephalomyopathies/*pathology/physiopathology NAD(P)H Dehydrogenase (Quinone)/*deficiency
Pubmed
Web of science
Create date
25/01/2008 13:40
Last modification date
03/03/2018 18:36
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