Propionic acidaemia: a neuropathological study of two patients presenting in infancy

The clinical and neuropathological findings are described in two children with propionic acidaemia presenting in infancy; they survived for 4 and 16 years respectively. Abnormalities were noted in the basal ganglia of both patients. In one child who clinically had severe athetosis, there was marbling of the corpus striatum. Clinical and morphological evidence suggests that the basal ganglia are especially vulnerable in propionic acidaemia.