Two sisters had Behr syndrome; autopsy was performed on one. The autopsy revealed central atrophy of the optic nerves' and total disarray of the normal laminar pattern of the lateral geniculate nucleus, dropout of neurons, and gliosis. There were numerous axonal spheroids in the neuropil. Similar spheroids with cell loss and gliosis were also observed in other thalamic nuclei and, rarely, in the pallida. We raise the possibility that Behr syndrome is a manifestation of a heterogeneous group of disorders, and suggest relationship of this particular case to infantile neuroaxonal dystrophy.