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, cilt.61, sa.2, ss.275-278, 2019 (SCI-Expanded, Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 61 Sayı: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.24953/turkjped.2019.02.019
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.275-278
  • Anahtar Kelimeler: giant axonal neuropathy, polyneuropathies, neurodegenerative diseases
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.