Summary
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.
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Wisniewski, K.E., Laure-Kamionowska, M., Sher, J. et al. Infantile neuroaxonal dystrophy in an albino girl. Acta Neuropathol 66, 68–71 (1985). https://doi.org/10.1007/BF00698297
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DOI: https://doi.org/10.1007/BF00698297