Acute debut of neuroacanthocytosis in clinical practice

Neuroacanthocytosis is a rare autosomal dominant disease, which in its clinical manifestation is characterized by choreiform hyperkinesis, mental and cognitive disorders, signs of polyneuropathy and cardiomyopathy, and the basis of the disease is presence of modified erythrocytes (acanthocytes) in peripheral blood. The disease is characterized by autosomal dominant type of inheritance (the gene was mapped on chromosome 9q21), sporadic cases are possible. Description of a clinical case of a 63-year old patient with neuroacanthocytosis delivered by an ambulance with a preliminary diagnosis of stroke is provided. The patient complained of severe general fatigue, whole body shivering, and involuntary compulsive uncontrollable movements in the limbs, body, and face. The patient noted changes in her voice, probably due to compulsive movements of her tongue, lightheadedness, and shaky walk. Almost all physical and laboratory findings were within normal. Taking into account acuteness of the disease, its attack at the time of hypertensive emergency and patient’s age, circular cause was suggested, computed tomography of the brain and magnetic resonance imaging were performed. The results of neuroimaging ruled out the pathology of cerebral circulation. Ultrasound of neck vessels revealed nothing abnormal. Purposeful repeated blood analysis revealed that 85% of erythrocytes were acanthocytes and after that the correct diagnosis was made. The peculiarities of this clinical case are acute manifestation of symptoms and relatively late debut of the disease.

neuroacanthocytosis, chorea-acanthocytosis, inherited diseases