Document Detail

Striatal degeneration and spongy myelinopathy in glutaric acidemia.
MedLine Citation:
PMID:  1564518     Owner:  NLM     Status:  MEDLINE    
The neuropathological findings in a 6 1/2-year-old boy with glutaric acidemia (GA) are described, and the pathology of 7 additional literature cases is briefly reviewed. Bilateral striatal degeneration and spongy change of the white matter were the salient features in this case and seem to represent the cardinal pathological features of the disease. Spongy myelinopathy was the result of intramyelinic vacuolation due to splitting of the myelin sheath along the intraperiod line, as illustrated here for the first time in GA. Based on morphological, biochemical and pharmacological data from humans and experimental animals, it is hypothesized that excitotoxin-mediated neuronal damage may account for the striatal degeneration, while toxic effect on myelin metabolism by the metabolic derangement of GA may explain the widespread white matter changes.
D Soffer; N Amir; O N Elpeleg; J M Gomori; R S Shalev; S Gottschalk-Sabag
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  107     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  1992 Feb 
Date Detail:
Created Date:  1992-05-21     Completed Date:  1992-05-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  199-204     Citation Subset:  IM    
Department of Pathology, Hebrew University, Hadassah Medical School, Jerusalem, Israel.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / pathology*
Corpus Striatum / pathology*,  ultrastructure
Glutaryl-CoA Dehydrogenase
Magnetic Resonance Imaging
Myelin Sheath / ultrastructure*
Nerve Degeneration
Optic Nerve / pathology,  ultrastructure
Oxidoreductases / deficiency*
Oxidoreductases Acting on CH-CH Group Donors*
Vacuoles / ultrastructure
Reg. No./Substance:
EC 1.-/Oxidoreductases; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors; EC Dehydrogenase

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