Giant axonal neuropathy: report on a case with focal fiber loss.
We report on a 5 1/2 year-old boy with chronic progressive polyneuropathy, ataxia, and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.
Sabatelli
M
M
Neurological Institute, Rome, Italy.
Bertini
E
E
Servidei
S
S
Fernandez
E
E
Magi
S
S
Tonali
P
P
D001369:Axons / Q000648:ultrastructure*; D002675:Child, Preschool; D004594:Electrophysiology; D006801:Humans; D007382:Intermediate Filaments / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009412:Nerve Fibers / Q000648:ultrastructure; D009422:Nervous System Diseases / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology