Document Detail

Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia.
MedLine Citation:
PMID:  15205843     Owner:  NLM     Status:  MEDLINE    
Methylmalonic acidemia (MMA) is a multifactorial autosomal recessive inborn error of organic acid metabolism, often presenting with neurologic findings. We report the imaging findings in a case of a child with classic neurological and laboratory findings for MMA. Imaging studies demonstrated abnormalities within the basal ganglia, particularly the globi pallidi (GP). Diffusion-weighted abnormalities seen in patients with MMA during an acute episode of metabolic acidosis and at follow-up are discussed. The authors are aware of only one prior report of serial examinations demonstrating resolution of restricted diffusion in the GP. The biochemical and pathophysiologic basis of the imaging findings of MMA are explained.
Steven J Michel; Curtis A Given; William C Robertson
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2004-03-09
Journal Detail:
Title:  Pediatric radiology     Volume:  34     ISSN:  0301-0449     ISO Abbreviation:  Pediatr Radiol     Publication Date:  2004 Jul 
Date Detail:
Created Date:  2004-06-18     Completed Date:  2005-03-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0365332     Medline TA:  Pediatr Radiol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  580-2     Citation Subset:  IM    
Department of Diagnostic Radiology, University of Kentucky Chandler Medical Center, Room HX-311C, 800 Rose Street, Lexington, KY 40536, USA.
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MeSH Terms
Brain Diseases, Metabolic, Inborn / drug therapy,  pathology*
Child, Preschool
Diffusion Magnetic Resonance Imaging*
Globus Pallidus / pathology
Methylmalonic Acid / analysis*
Reg. No./Substance:
516-05-2/Methylmalonic Acid

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

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