Abstract
A detailed autopsy study of three children with ornithine carbamoyl transferase (OCT) deficiency is presented. Although variable in extent, a basic pattern of neuropathological lesions is discernible. Case 1 shows gross cerebral atrophy, cases 2 and 3 milder lesions in the basal nuclei but also multiple cerebellar heterotopias and delayed myelination. We suggest that the findings may provide evidence that OCT deficiency can have a teratogenic effect in utero and suggest that there is a need to monitor the pregnancies of carriers of this disorder.
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Harding, B.N., Leonard, J.V. & Erdohazi, M. Ornithine carbamoyl transferase deficiency: A neuropathological study. Eur J Pediatr 141, 215–220 (1984). https://doi.org/10.1007/BF00572763
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DOI: https://doi.org/10.1007/BF00572763