Acil servise akut solunum yetmezliği ve bilinç kaybı ile başvuran bir olguda nöroakantositoz: Bir olgu sunumu

Year 2019, , 777 - 781, 01.10.2019

Muzaffer Gencer

https://doi.org/10.28982/josam.635128

Abstract

Nöroakantositoz (NA) tanısı, periferik yayma yoluyla akantositlerin varlığı ve beraberindeki klinik tablo ile yapılır. Teşhis için laboratuvar testler; akantosit tespit etmek için kan smear yapılması, kreatin kinaz, genetik analiz ve/veya western blot tekniği ile koreine düzey muayenesidir. Bu yazıda acil servise akut solunum yetmezliği ve bilinç kaybı şikayeti ile başvuran 34 yaşında bir erkek hasta sunulmuştur. Yoğun bakım ünitesine alındıktan sonra entübe edildi ve mekanik ventilatör desteği aldı ve Chorea akanthozytose (ChAc) tanısı aldı. Akut solunum yetmezliği ve bilinçte bozulma gibi karmaşık bir klinik ile başvuran hastalarda ayırıcı tanılar arasında NA düşünülmesinin gerekliliğini vurgulamayı hedefliyoruz.

Keywords

Akut solunum yetmezliği, Aksonal nöropati, Kore akantositozis, Yoğun bakım ünitesi, Nöroakantositozis

Neuroacanthocytosis in a case presenting to emergency department with acute respiratory failure and loss of consciousness: A case report

Abstract

The diagnosis of neuroacanthocytosis (NA) is made by the presence of acanthocytes via peripheral smear and by the accompanying clinical picture. Laboratory tests for diagnosis include blood smears to detect acanthocytosis, creatine kinase, genetic analysis and / or chorein level examination with western blot technique. This paper describes the case of a 34 year-old male patient who presented to the emergency department with acute respiratory failure and loss of consciousness. He was intubated and received mechanical ventilatory support after admission to the intensive care unit, and was diagnosed with Chorea akanthozytose (ChAc). We aim to emphasize the need to consider NA among the differential diagnoses for patients presenting with complex clinic such as acute respiratory failure and altered consciousness.

Keywords

Acute respiratory failure, Axonal neuropathy, Chorea akanthozytose, Intensive care unit, Neuroacanthocytosis

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