Diagnosis of infantile neuroaxonal dystrophy by skin biopsy
- PMID: 6246837
- DOI: 10.1002/ana.410070416
Diagnosis of infantile neuroaxonal dystrophy by skin biopsy
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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