ISSN:
1432-1076
Keywords:
Grant axonal neuropathy
;
Endocrinological study
;
Ultramicro-scopic hair, sural nerve, conjunctiva, skin findings
;
Vitamin B12 and prednisone therapy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A case of giant axonal neuropathy (GAN) in a boy of 4 years and 6 months, is reported. Nerve conduction velocity (NCV), EEG and CT scan indicated both peripheral and central nervous system involvement. Intestinal absorption tests did not reveal vitamin B12 malabsorption; the endocrine situation was found to be substantially normal. The clinical picture was not modified by 18 months cyanocobalamine administration followed by 2 months therapy with prednisone. Electron microscopic (EM) examination revealed longitudinal and opposing grooves (pili canaliculi) in the hair and bundles of neuro-filaments in the myelinated and unmyelinated nerve fibre axons in sural nerve. EM of conjunctiva and skin revealed masses of intermediate-sized filaments within mastcells, fibroblasts, melanocytes, endothelial and Schwann cells. These findings confirm the hypothesis that GAN is a generalised abnormality of cytoplasmic microfilament formation, probably linked to an unknown disorder of protein metabolism.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00451961
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