title: Infantile neuroaxonal dystrophy in an albino girl. A cliniconeuropathologic study.
abstract: 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.
authors.forename: K E
authors.initials: KE
authors.lastname: Wisniewski
authors.forename: M
authors.initials: M
authors.lastname: Laure-Kamionowska
authors.forename: J
authors.initials: J
authors.lastname: Sher
authors.forename: J
authors.initials: J
authors.lastname: Pitter
mesh_terms: D000417:Albinism / Q000473:pathology*; D001253:Astrocytes / Q000648:ultrastructure; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D003638:Deafness / Q000473:pathology*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D009410:Nerve Degeneration; D009468:Neuromuscular Diseases / Q000473:pathology*; D009896:Optic Atrophy / Q000473:pathology*; D009900:Optic Nerve / Q000473:pathology; D013577:Syndrome