Neuroacanthocytosis: Case report and neuroimaging findings

Neuroacanthocytosis syndromes are rare inherited neurodegenerative disorders, characterized by the presence of acanthocytes. Among them, Choreoacanthocytosis and McLeod syndrome stand out, sharing similarities with Huntington's disease, including choreic movement disorders, psychiatric symptoms, and cognitive decline. The case described involves a 36-year-old patient with cognitive deficits, involuntary movements, and ataxic gait. Cranial computed tomography revealed accentuation of cortical sulci and cisterns and atrophy of the caudate nucleus with ex-vacuo dilatation of the anterior horns of the lateral ventricles. Magnetic resonance imaging confirmed these findings and showed putamen atrophy and hypointensity in the basal nuclei. Diagnosis included peripheral blood smear, which revealed numerous acanthocytes, culminating in neuroacanthocytosis, specifically choreoacanthocytosis.