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, B1 and B12 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.