Summary
Two cases of infantile neuroaxonal dystrophy in female siblings are reported. The clinical features, with a fatal outcome within 7 years and 3 years respectively, were characterized by progressive psycho-motor retardation. The first manifestation of the disease appeared at the age of one and half years and at the age of 4 months, respectively. Light microscopy shows spheroids with a selective distribution in medulla, posterior horn of spinal cord and cerebral cortex, diffuse cerebellar cortical atrophy with sclerosis, sudanophilic fatty deposits and status dysmyelinisatus in the striatum. Electron microscopy shows tubulomembranous structures composed of usually compactly arranged smooth membranes, aggregations of mitochondria in the spheroids, filamentous inclusions simulating Hirano bodies in the spheroid and axon. Spheroids were present in nerve cell perikarya, axons, dendrites, and presynaptic terminals.
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Yagishita, S., Kimura, S. Infantile neuroaxonal dystrophy. Acta Neuropathol 29, 115–126 (1974). https://doi.org/10.1007/BF00684770
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DOI: https://doi.org/10.1007/BF00684770