Selective death of immature neurons in methylmalonic acidemia of the neonate : a case report

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 in...

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Bibliographic Details
Published in:Acta neuropathologica 1993, Vol.85 (2), p.217-221
Main Authors: SUM, J. M, TWISS, J. L, HOROUPIAN, D. S
Format: Article
Language:English
Subjects:
Amino Acid Metabolism, Inborn Errors - metabolism
Amino Acid Metabolism, Inborn Errors - pathology
Aminoacid disorders
Biological and medical sciences
Brain - pathology
Cell Death
Errors of metabolism
Female
Humans
Immunoenzyme Techniques
Infant, Newborn
Medical sciences
Metabolic diseases
Methylmalonic Acid - blood
Microscopy, Electron
Neurons - pathology
Spinal Nerve Roots - pathology
Spinal Nerve Roots - ultrastructure
Spleen - pathology
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Summary: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.
ISSN:0001-6322
1432-0533
DOI:10.1007/BF00227771