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

• Main Author: Muzaffer Gencer
• Format: Article
• Language: English
• Published: Journal of Surgery and Medicine 2019-10-01
• Series: Journal of Surgery and Medicine
• Subjects: acute respiratory failure; axonal neuropathy; chorea akanthozytose; intensive care unit; neuroacanthocytosis; akut solunum yetmezliği; aksonal nöropati; kore akantositozis; yoğun bakım ünitesi; nöroakantositozis
• Online Access: https://dergipark.org.tr/en/pub/josam/issue/49120/635128

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.