Neuroacanthocytosis with unusual clinical features: A case report

• Published in: Medicine (Baltimore) Vol. 98; no. 2; p. e14050
• Main Authors: Zhu, Hui, Feng, Xue-Min, Zhao, Teng, Liu, Jing-Yao
• Format: Journal Article
• Language: English
• Published: United States Wolters Kluwer Health 01.01.2019
• Subjects: Clinical Case Report; Diagnosis, Differential; Female; Humans; Middle Aged; Neuroacanthocytosis - diagnosis; Neuroacanthocytosis - drug therapy; Neuroacanthocytosis - pathology
• ISSN: 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000014050

Neuroacanthocytosis (NA) is a heterogeneous group of inherited neurodegenerative disorders characterized by misshapen spiculated erythorcytes and symptoms that resemble Huntington's disease. A 59-year-old female who developed hyperkinetic involuntary movements that became progressively more obvious during the course of a year. Acanthocytes were observed in a peripheral blood smear. The patient had elevated levels of serum creatine kinase (CK). Gene sequencing did not reveal a genetic mutation. The patient was administered oral tiapride, alprazolam, B1 and B12 Vitamins. After 2 months of treatment the patient's symptoms were obviously alleviated. At the 6 month follow-up, the patient could feed herself and walk without assistance. The NA syndrome is extremely rare. It may be identified in the clinic based on abnormal orofacial movement, chorea, cognitive decline, elevated CK levels, and acanthocytosis. If available, protein- or genetic-based testing may provide a confirmatory diagnosis.