Ornithine carbamoyl transferase deficiency: A neuropathological study
- 1 February 1984
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 141 (4), 215-220
- https://doi.org/10.1007/bf00572763
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.This publication has 24 references indexed in Scilit:
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