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Neuroacanthocytosis with unusual clinical features: A case report

Hui Zhu¹, Xue-Min Feng, Teng Zhao

¹Department of Neurology, The First Hospital, Jilin University, Changchun, China.

|January 12, 2019

Abstract

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.

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