Infantile neuroaxonal dystrophy.

Abstract

A sister and her brother died at 12 and 18 months, respectively, with mental retardation, paralysis, and epilepsy. The brain of the 2nd child was examined neuropathologically. Allowing for certain divergences, the changes were those of infantile neuroaxonal dystrophy. The condition was almost certainly congenital in the present patients who died at an earlier age than any of the previously recorded ones. The sister was probably suffering from the same disorder.