Summary
an unusual case of generalized neuroaxonal dystrophy is presented. This variant was characterized by late onset with visual deterioration at the age of 9 years and subsequent slow but steady progression resulting in impairment of visual and motor function, spasticity and ataxia. A more rapid deterioration occurred after the age of 18 years resulting in complete blindness, cranial nerve palsies and spasticity. He died of intercurrent infection at the age of 21 years. Examination of the brain revealed widespread neuroaxonal dystrophy which severely affected all the grey matter of the cerebral hemisphere but caused minimal involvement of the cerebellum. The pigmentation of the pallidum was only slightly increased. It is felt that this case constitutes a juvenile variant of neuroaxonal dystrophy, possibly a link between infantile neuroaxonal dystrophy and the adult form of Hallervorden-Spatz disease.
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Rozdilsky, B., Bolton, C.F. & Takeda, M. Neuroaxonal dystrophy. Acta Neuropathol 17, 331–340 (1971). https://doi.org/10.1007/BF00685019
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DOI: https://doi.org/10.1007/BF00685019