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Case Report
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Neuro-acanthocytosis: Report of two cases

Year 2020, Volume: 59 Issue: 1, 64 - 66, 13.03.2020

Hüseyin Nezih Özdemir Ahmet Gökçay Figen Gökçay

https://doi.org/10.19161/etd.698519

Abstract

Neuro-acanthocytosis (NA), an umbrella term for a group of rare diseases characterized by misshapen erythrocytes (acanthocytes) and neuronal multisystem pathology. Clinical features include choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional features including myopathy, axonal neuropathy and seizures. Herein we report two cases - a 42-year-old woman and a 28-year-old man - from Turkey presented with heterogenous courses of neuro-acanthocytosis.

Keywords

Acanthocytosis chorea epilepsy neuropathy

References

  • Jung H, Danek A,Walker RH. Neuroacanthocytosis Syndromes. Orphanet J Rare Dis. 2011; 6: 68.
  • Peikert A, Danek A, Hermann A. Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. Eur J Med Genet. 2018; 61 (11); 699-705.
  • Baeza VA, Dobson-Stone C, Rampoldi L, et al. Chorea-Acanthocytosis. GeneReviews [serial on the internet]. 2014 [cited 20 Feb 2019]. Avaible from https://www.ncbi.nlm.nih.gov/books/NBK1387/
  • Walker RH. Management of Neuroacanthocytosis Syndromes. Tremor Other Hyperkinet Mov (N Y). 2015; 5: 346.

Nöroakantostoz: İki olgu sunumu

Year 2020, Volume: 59 Issue: 1, 64 - 66, 13.03.2020

Hüseyin Nezih Özdemir Ahmet Gökçay Figen Gökçay

https://doi.org/10.19161/etd.698519

Abstract

Nöroakantostoz, yanlış biçimli eritrositler ve nöronal çoklu sistem patolojisi ile karakterize nadir görülen bir grup hastalık için kullanılan şemsiye bir terimdir. Klinik özellikleri koreik hareket bozuklukları, psikiyatrik bulgular ve bilişsel gerilemeye ek olarak myopati, aksonal nöropati ve nöbetleri içerir. Burada Türkiye’den, nöroakantozun farklı klinik seyirleri ile prezente olan iki olgu -42 yaşında bir kadın ve 28 yaşında bir erkek- sunulmuştur.

Keywords

Akantostoz kore epilepsi nöropati

References

  • Jung H, Danek A,Walker RH. Neuroacanthocytosis Syndromes. Orphanet J Rare Dis. 2011; 6: 68.
  • Peikert A, Danek A, Hermann A. Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. Eur J Med Genet. 2018; 61 (11); 699-705.
  • Baeza VA, Dobson-Stone C, Rampoldi L, et al. Chorea-Acanthocytosis. GeneReviews [serial on the internet]. 2014 [cited 20 Feb 2019]. Avaible from https://www.ncbi.nlm.nih.gov/books/NBK1387/
  • Walker RH. Management of Neuroacanthocytosis Syndromes. Tremor Other Hyperkinet Mov (N Y). 2015; 5: 346.
There are 4 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Reports
Authors

Hüseyin Nezih Özdemir 0000-0002-0651-7276

Ahmet Gökçay 0000-0003-1617-7698

Figen Gökçay 0000-0003-4870-3154

Publication Date March 13, 2020
Submission Date January 26, 2019
Published in Issue Year 2020 Volume: 59 Issue: 1

Cite

Vancouver Özdemir HN, Gökçay A, Gökçay F. Neuro-acanthocytosis: Report of two cases. EJM. 2020;59(1):64-6.
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