Document Detail

Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms.
MedLine Citation:
PMID:  12150585     Owner:  NLM     Status:  MEDLINE    
Infantile spasms represent an age-dependent response of the immature brain to a wide variety of insults. An unselected group of children with infantile spasms were reviewed to determine etiology; a metabolic work-up was undertaken if the etiology was unclear from history and examination (cryptogenic). Of the 56 infants, 34 had a recognizable etiology (symptomatic), 1 had normal development (idiopathic), and 21 had cryptogenic infantile spasms. Among the latter, results of plasma lactate and pyruvate or urine organic acids were available in 17. In 2 infants (monozygotic twins), mitochondrial DNA testing revealed the relatively common A3243G mitochondrial mutation. In these twins and 11 of the remaining 15, body fluid metabolite testing suggested possible defective energy metabolism. Our twins and previous reports suggest that mitochondrial disorders should be considered in the differential diagnosis of infantile spasms. Among our cases remaining cryptogenic, signs of abnormal energy metabolism were prevalent, suggesting that metabolic derangements may be common causes or secondary consequences of infantile spasms.
Namrata S Shah; Wendy G Mitchell; Richard G Boles
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  17     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2002 May 
Date Detail:
Created Date:  2002-08-01     Completed Date:  2003-01-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  369-72     Citation Subset:  IM    
Division of Neurology, Childrens Hospital Los Angeles, CA, USA.
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MeSH Terms
DNA, Mitochondrial / genetics
Diagnosis, Differential
Energy Metabolism / physiology
Infant, Newborn
Lactic Acid / blood,  urine
Mitochondrial Diseases / complications*,  diagnosis,  genetics
Point Mutation / genetics
Polymerase Chain Reaction
Pyruvic Acid / blood,  urine
Retrospective Studies
Spasms, Infantile / diagnosis,  etiology*,  metabolism
Twins / genetics
Reg. No./Substance:
0/DNA, Mitochondrial; 127-17-3/Pyruvic Acid; 50-21-5/Lactic Acid

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

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