title: Infantile neuroaxonal dystrophy and giant axonal neuropathy: are they related?
abstract: Light and electron microscopic findings from two sural nerve biopsies obtained at a one-year interval from a patient with the clinical features of Seitelberger's disease are described. Ballooned axons with accumulations of membranous profiles, vesicles, mitochondria, and a homogeneous center were present, and there were masses of 90 A filaments in endothelial, endoneurial, perineurial, and Schwann cells. These pathological alterations were less prominent in the second nerve biopsy, which showed a more pronounced decrease in myelinated fibers. The case shows that a generalized increase of 90 A filaments in structures of the peripheral nervous system is not a phenomenon exclusively occurring in patients with giant axonal neuropathy and, furthermore, that it may be a transitory feature.
mesh_terms: D001369:Axons / Q000648:ultrastructure*; D002675:Child, Preschool; D003599:Cytoskeleton / Q000648:ultrastructure*; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D010525:Peripheral Nerves / Q000648:ultrastructure*; D012583:Schwann Cells / Q000648:ultrastructure; D013577:Syndrome