Abstract
Neuropathological findings are described in a child who suffered from carbamylphosphate-synthetase deficiency and died at the age of 7 months. The brain showed ulegyria of the cerebral and cerebellar cortex and hypomyelination of the centrum semiovale and the central part of the brainstem. Two sibs, who had died at the age of 4 weeks after a comparable illness, showed brain damage that seemed to represent an earlier stage of that observed in the first patient. These two children also showed bilateral symmetrical necrotizing lesions in certain brainstem areas (in one, kernicterus was observed macroscopically). The absence of further neuropathological observations in this disease makes it as yet impossible to reach any definite conclusion as to the aetiology of the brain lesions.