Olgu Sunumu

Neuro-acanthocytosis: Report of two cases

Cilt: 59 Sayı: 1 13 Mart 2020
  • Hüseyin Nezih Özdemir *
  • Ahmet Gökçay
  • Figen Gökçay
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Neuro-acanthocytosis: Report of two cases

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

Kaynakça

  1. Jung H, Danek A,Walker RH. Neuroacanthocytosis Syndromes. Orphanet J Rare Dis. 2011; 6: 68.
  2. 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.
  3. 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/
  4. Walker RH. Management of Neuroacanthocytosis Syndromes. Tremor Other Hyperkinet Mov (N Y). 2015; 5: 346.

Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Olgu Sunumu

Yazarlar

Hüseyin Nezih Özdemir *
0000-0002-0651-7276
Türkiye

Ahmet Gökçay
0000-0003-1617-7698
Türkiye

Figen Gökçay
0000-0003-4870-3154
Türkiye

Yayımlanma Tarihi

13 Mart 2020

Gönderilme Tarihi

26 Ocak 2019

Kabul Tarihi

29 Mart 2019

Yayımlandığı Sayı

Yıl 2020 Cilt: 59 Sayı: 1

DOI

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

IZ

https://izlik.org/JA56TB66SH

Kaynak Göster

RIS / Bibtex
Vancouver
1.Hüseyin Nezih Özdemir, Ahmet Gökçay, Figen Gökçay. Neuro-acanthocytosis: Report of two cases. ETD. 01 Mart 2020;59(1):64-6. doi:10.19161/etd.698519

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