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Case Reports
. 1980 Apr;7(4):377-9.
doi: 10.1002/ana.410070416.

Diagnosis of infantile neuroaxonal dystrophy by skin biopsy

Case Reports

Diagnosis of infantile neuroaxonal dystrophy by skin biopsy

K Wisniewski et al. Ann Neurol. 1980 Apr.

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.

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