Giant axonal neuropathy: A differential diagnosis of consideration
Giant axonal neuropathy (GAN) is a rare neurodegenerative disorder affecting both the central and peripheral nervous systems progressively. The recessive mutations of the GAN gene are responsible for the disease. Although some clinical aspects, like coarse and kinky hair, are suggestive, other dise...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2019-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/686 |
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| Summary: | Giant axonal neuropathy (GAN) is a rare neurodegenerative disorder affecting both the central and peripheral nervous systems progressively. The recessive mutations of the GAN gene are responsible for the disease. Although some clinical aspects, like coarse and kinky hair, are suggestive, other diseases may interfere with diagnosis. We describe a case who previously had been diagnosed with and treated for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); after re-evaluation, genetic testing was received, and the patient was diagnosed with GAN.
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| ISSN: | 0041-4301 2791-6421 |