Severe cerebral damage in ornithine transcarbamylase deficiency

Two patients are described with hyperammonemia due to ornithine transcarbamylase (OTC) deficiency who suffered severe shrinkage and collapse of the brain. The cerebral cortex was spongy and cavitated, containing only a few residual neurons, and was markedly gliosed. In one patient the basal ganglia were affected and harbored Alzheimer type II astrocytes. These lesions resemble those of acquired hepatocerebral degeneration and occur especially in female children with the milder form of the disease, who have a potential to survive. Strict observance of dietary restrictions is mandatory to avoid catastrophic damage to the brain.