Infantile neuroaxonal dystrophy in an albino girl. A cliniconeuropathologic study

We present a cliniconeuropathologic study of infantile neuroaxonal dystrophy (INAD) in a 5-year-old Black girl with albinism. The clinical picture shows progressive psychomotor deterioration, beginning after 1 year of age, with hypotonia, pyramidal signs, optic atrophy, and deafness. Light-microscopic examination of the brain reveals wide distribution of spheroids, cerebellar atrophy, and neuronal loss with astrocytosis. This is the first described case of the combination of INAD with albinism.