The Turkish Journal of Pediatrics 2019 , Vol 61 , Num 2
Giant axonal neuropathy: A differential diagnosis of consideration
Pınar Edem 1 ,Mert Karakaya 2 ,Brunhilde Wirth 2 ,Tuncay Derya Okur 1 ,Uluç Yiş 1
1 Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
2 Institute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany
DOI : 10.24953/turkjped.2019.02.019 Edem P, Karakaya M, Wirth B, Okur TD, Yiş U. Giant axonal neuropathy: A differential diagnosis of consideration. Turk J Pediatr 2019; 61: 275-278.

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. Keywords : giant axonal neuropathy, polyneuropathies, neurodegenerative diseases

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