Diagnosis of infantile neuroaxonal dystrophy by skin biopsy.
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.
D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008854:Microscopy, Electron; D009422:Nervous System Diseases / Q000473:pathology*; D012583:Schwann Cells / Q000648:ultrastructure; D012867:Skin / Q000473:pathology*; D013577:Syndrome