Document Detail


Fibrous dysplasia in a child with mitochondrial A8344G mutation.
MedLine Citation:
PMID:  18772492     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Myoclonic epilepsy associated with ragged red fibers (MERRF) syndrome is one of the major mitochondrial encephalomyopathies, with the involvement of various organs, which could be caused by mitochondrial A8344G DNA mutation. Monostotic fibrous dysplasia of bone, an asymptomatic developmental disorder, was reported to result from c-fos overexpression in osteogenic cells. Mitochondrial A8344G mutation has been shown to increase c-fos expression in a MERRF cybrid cell line. The authors describe a boy aged 10 years and 2 months with MERRF syndrome and A8344G mutation. Visual disturbance developed and deteriorated rapidly 5 months after the diagnosis of MERRF. A brain magnetic resonance imaging revealed optic nerve compression by sphenoid fibrous dysplasia, which was confirmed by histology. Fibrous dysplasia has never been mentioned in MERRF patients in the literature. This rare association may be because of underestimation, or it could be a coincidence. Care should be taken to explore the skeletal system in MERRF patients with focal symptoms.
Authors:
Szu-Ta Chen; Pi-Chuan Fan; Wuh-Liang Hwu; Mei-Hwan Wu
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-09-04
Journal Detail:
Title:  Journal of child neurology     Volume:  23     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-12-16     Completed Date:  2009-04-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1447-50     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
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MeSH Terms
Descriptor/Qualifier:
Child
DNA, Mitochondrial / genetics*
Humans
MERRF Syndrome / genetics*
Male
Mitochondrial Encephalomyopathies / genetics*
Mutation*
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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