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Diagnosis of infantile neuroaxonal dystrophy by skin biopsy
Annals of Neurology
|April 1, 1980
Abstract:
Skin biopsy with ultrastructural examination of cutaneous nerves showed dystrophic axons (spheroids), confirming a diagnosis of infantile neuroaxonal dystrophy. Independent of axonal changes, a few endoneurial and Schwann cells showed cytoplasmic inclusion bodies composed of structures similar to those seen in the spheroids.
