Giant Axonal Neuropathy Among Two Siblings - A Case Report
Giant axonal neuropathy is a rate disorder with an autosomal recessive inheritance. It should be differentiated from toxic neuropathies, and hereditary degenerative disorders of nervous system like Friedreich′s ataxia and HMSN. Thick curly hair, though may not be present always is a usefu...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2001-01-01
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Series: | Annals of Indian Academy of Neurology |
Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2001;volume=4;issue=1;spage=31;epage=34;aulast=John;type=0 |
Summary: | Giant axonal neuropathy is a rate disorder with an autosomal recessive inheritance. It should be differentiated from toxic neuropathies, and hereditary degenerative disorders of nervous system like Friedreich′s ataxia and HMSN. Thick curly hair, though may not be present always is a useful clinical clue to identify cases. Prognosis is generally poor though course of the illness is variable. We report here a clinically and hisopathologically characteristic familial case of giant axonal neuropathy, which occurred in a 17-year-old boy, and his 21-year-old sister. |
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ISSN: | 0972-2327 1998-3549 |