J Electrodiagn Neuromuscul Dis.
2021 Aug;23(2):67-70. 10.18214/jend.2021.00031.
Neuroacanthocytosis Syndrome Misdiagnosed as Inflammatory Myopathy: A Case Report
- Affiliations
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- 1Department of Physical and Rehabilitation Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- 2Department of Physical and Rehabilitation Medicine, Korea University Guro Hospital, Seoul, Korea
- KMID: 2526165
- DOI: http://doi.org/10.18214/jend.2021.00031
Abstract
- Neuroacanthocytosis syndromes are a category of diseases characterized by progressive basal ganglia degeneration and acanthocytosis. Chorea-acanthocytosis (ChAc), a core neuroacanthocytosis syndrome, is characterized by chorea, psychiatric symptoms, and cognitive decline. It is also associated with neuromuscular abnormalities, including myopathy and axonal neuropathy. Herein, we describe a case of ChAc that was misdiagnosed and inappropriately treated as an inflammatory myopathy due to lower extremity weakness and hyper-creatine kinase (CK)-emia. Careful clinical and laboratory evaluations are always warranted to rule out neuroacanthocytosis in patients with myopathy presenting with chorea and peripheral neuropathy. Although rare, it is necessary to consider ChAc as a potential cause of hyperCKemia. A prompt differential diagnosis can prevent unnecessary treatment with steroids or immunomodulating agents.
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