Neuroacanthocytosis with unusual clinical features: A case report

RATIONALE: Neuroacanthocytosis (NA) is a heterogeneous group of inherited neurodegenerative disorders characterized by misshapen spiculated erythorcytes and symptoms that resemble Huntington's disease. PATIENT CONCERNS: A 59-year-old female who developed hyperkinetic involuntary movements that became progressively more obvious during the course of a year. DIAGNOSES: 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. INTERVENTIONS: The patient was administered oral tiapride, alprazolam, B(1) and B(12) Vitamins. OUTCOMES: 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. LESSONS: 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.