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

Muzaffer Gencer

doi:10.28982/josam.635128

Authors

Muzaffer Gencer https://orcid.org/0000-0002-3324-5106

DOI:

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

Keywords:

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

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.

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