Document Detail


Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder.
MedLine Citation:
PMID:  8151637     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have investigated a 15 year old girl with progressive external ophthalmoplegia, including bilateral ptosis and retinal rod and cone cell dysfunction with atypical retinal pigmentation, complicated by cerebellar ataxia, partial cardiac conduction block, and diabetes mellitus. In infancy she had a severe crisis of bone marrow depression, and as a child she suffered from hypersensitivity to light, increasing fatigue, and vertigo, signs that were initially though to be psychosomatic. Histological examination showed mitochondrial myopathy, and subsequent mitochondrial DNA (mtDNA) analysis showed a deletion of approximately 5500 base pairs in 35 to 40% of her muscle mtDNA. We therefore conclude that this patient has developed the Kearns-Sayre syndrome after a Pearson syndrome-like crisis in her first year of life.
Authors:
S Nørby; P Lestienne; I Nelson; I M Nielsen; H Schmalbruch; O Sjö; M Warburg
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  31     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1994 Jan 
Date Detail:
Created Date:  1994-05-10     Completed Date:  1994-05-10     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  45-50     Citation Subset:  IM    
Affiliation:
Institute of Forensic Genetics, University of Copenhagen, Denmark.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Base Sequence
Blotting, Southern
DNA Primers
DNA, Mitochondrial / genetics
Diagnostic Errors
Female
Humans
Kearns-Sayre Syndrome / diagnosis*,  pathology
Microscopy, Electron
Molecular Sequence Data
Muscles / ultrastructure
Psychophysiologic Disorders / diagnosis*
Sequence Deletion
Chemical
Reg. No./Substance:
0/DNA Primers; 0/DNA, Mitochondrial
Comments/Corrections

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