Giant axonal neuropathy: A differential diagnosis of consideration

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Edem P., Karakaya M., Wirth B., Okur T. D., YİŞ U.

TURKISH JOURNAL OF PEDIATRICS, vol.61, no.2, pp.275-278, 2019 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 61 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.24953/turkjped.2019.02.019
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.275-278
  • Keywords: giant axonal neuropathy, polyneuropathies, neurodegenerative diseases
  • Open Archive Collection: AVESIS Open Access Collection
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.