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An autopsy case of adult-type citrullinemia in a 42-year-old male is reported. The patient neuropathologically presented mixed cerebral changes consisting of the pseudoulegyric and ischemic types of hepatocerebral disease. In common with previously reported cases of the pseudoulegyric type, the nature and localization of the cerebral changes in this case were characteristic, in that neuronal loss occurred most severely and symmetrically in the mediobasal part of the frontal and occipital lobes, gyrus cinguli, claustrum, insula and temporal lobe, and that the watershed area of the cerebral cortex, basal ganglia and Purkinje cells were only slightly affected. The importance of hypercitrullinemia was stressed in the pathogenesis of the cerebral changes evident in adult-type citrullinemia.

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