Neuropathology of ornithine carbamyl transferase deficiency

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.