Document Detail

VACTERL association and mitochondrial dysfunction.
MedLine Citation:
PMID:  21308977     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: VACTERL association includes the presence of malformations affecting the vertebrae, anus, heart, trachea and esophagus, kidneys, and limbs. The causes remain largely unknown, but rare patients with mitochondrial dysfunction have been reported. Although clinical signs and symptoms consistent with possible mitochondrial disease are not uncommon in patients with VACTERL association, the necessary testing to confirm mitochondrial dysfunction is infrequently performed.
METHODS: We describe a patient with relatively classic signs of VACTERL association who had an onset of clinical signs of mitochondrial dysfunction at 13 months of age. These signs included progressive muscle weakness, autonomic dysregulation, episodic hypoglycemia, and exocrine pancreatic dysfunction. The patient was later shown to have evidence of mitochondrial dysfunction (cytochrome c oxidase deficiency).
CONCLUSIONS: Abnormal mitochondrial function may be associated with VACTERL association, and clinicians who encounter patients with VACTERL association should have a low threshold for considering mitochondrial dysfunction.
Benjamin D Solomon; Ankita Patel; Sau Wai Cheung; Daniel E Pineda-Alvarez
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Intramural     Date:  2011-02-09
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  91     ISSN:  1542-0760     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-03-14     Completed Date:  2011-07-01     Revised Date:  2013-06-30    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  192-4     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Wiley-Liss, Inc.
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. solomonb@
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MeSH Terms
Anal Canal / abnormalities,  metabolism,  physiopathology
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 4
Esophagus / abnormalities,  metabolism,  physiopathology
Heart Defects, Congenital / complications,  genetics,  metabolism,  physiopathology
Kidney / abnormalities,  metabolism,  physiopathology
Limb Deformities, Congenital / complications,  genetics,  metabolism,  physiopathology
Mitochondria / physiology*
Mitochondrial Diseases / complications*,  diagnosis,  genetics,  physiopathology
Spine / abnormalities,  metabolism,  physiopathology
Trachea / abnormalities,  metabolism,  physiopathology
Grant Support

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