Neuropathology of ornithine carbamyl transferase deficiency

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ID: 115345
1970
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Abstract
Neuropathologic findings in two cases of ornithine carbamyl transferase (OCT) deficiency are presented. In one, a boy 3 days old, the only abnormality related to the enzyme defect was metabolic gliosis which was unusual in distribution being present mainly in the brain stem. In the other case, a girl who died at the age of 2 3/12 years, the brain showed metabolic gliosis in typical location, widespread ulegyria, and moderate atrophy of the internal granular layer in the cerebellum accompanied by development of expansions of Purkinje cell dendrites. Case 2 demonstrates how rapidly changes previously demonstrated in the cerebral cortex after a few months of illness can proceed to massive hemispheric destruction. By now ulegyria has been observed in several disorders of the urea cycle.
Reference Key
kornfeld1970actaneuropathology Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors M. Kornfeld;B. M. Woodfin;L. Papile;L. E. Davis;L. R. Bernard;M. Kornfeld;B. M. Woodfin;L. Papile;L. E. Davis;L. R. Bernard;
Journal acta neuropathologica
Year 1970
DOI
doi:10.1007/BF00687006
URL
https://link.springer.com/article/10.1007/BF00687006
Keywords
pathology neurosciences

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