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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11585466PMC
http://dx.doi.org/10.1016/j.radcr.2024.10.007DOI Listing

Publication Analysis

Top Keywords

neuroacanthocytosis case
4
case report
4
report neuroimaging
4
neuroimaging findings
4
findings neuroacanthocytosis
4
neuroacanthocytosis syndromes
4
syndromes rare
4
rare inherited
4
inherited neurodegenerative
4
neurodegenerative disorders
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!