Document Detail

Selective death of immature neurons in methylmalonic acidemia of the neonate: a case report.
MedLine Citation:
PMID:  8442414     Owner:  NLM     Status:  MEDLINE    
We report the clinical and post-mortem findings in a 4-day-old female infant with methylmalonic acidemia (MMA) prematurely delivered at 36 weeks gestation. Complementation analysis revealed a defect in methylmalonyl-CoA mutase apoenzyme activity. There was selective cell death of immature neurons involving germinal matrix, migrating neuroblasts, and both external and internal granular cell layers of the cerebellum and dentate gyrus of the hippocampus. Karyorrhexis was also seen in the lymphoid follicles of spleen, lymph nodes and in the thymus. Additionally, the spinal nerve roots demonstrated optically empty spaces in their myelin sheaths due to adaxonal separation of their myelin lamellae.
J M Sum; J L Twiss; D S Horoupian
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta neuropathologica     Volume:  85     ISSN:  0001-6322     ISO Abbreviation:  Acta Neuropathol.     Publication Date:  1993  
Date Detail:
Created Date:  1993-04-01     Completed Date:  1993-04-01     Revised Date:  2007-11-09    
Medline Journal Info:
Nlm Unique ID:  0412041     Medline TA:  Acta Neuropathol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  217-21     Citation Subset:  IM    
Department of Neurology, Stanford University Medical Center, CA 94305.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / metabolism,  pathology*
Brain / pathology
Cell Death
Immunoenzyme Techniques
Infant, Newborn
Methylmalonic Acid / blood*
Microscopy, Electron
Neurons / pathology*
Spinal Nerve Roots / pathology,  ultrastructure
Spleen / pathology
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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