A 35-year-old woman, with history of psychiatric symptoms and spasms, progressed over 6 years to choreatic movements, frequent falls, and gait incoordination. Within a year, she became bedridden with severe dysarthria, generalized spasticity, hand dystonia, and pyramidal signs. 1 2 Blood tests revealed 17% acanthocytes ( Figures. 1 2 ), initially suggesting neuroacanthocytosis. Creatine kinase levels were within normal limits. Brain magnetic resonance imaging (MRI) was performed ( Figure 3 ), and whole exome sequencing with ExpansionHunter (Illumina Inc.) analysis confirmed Huntington's disease (49 CAG repeats in the HTT gene). 1 This case reinforces a previously described 3 4 but underrecognized association and highlights potential diagnostic pitfalls in patients presenting with chorea and acanthocytosis.
Figure 1.
Peripheral blood smear analyzed in the central region of the slide after dilution in 0.85% saline, according to the protocol adapted from Feinberg (1991) and Storch (2005), compared with a healthy control. Red blood cells with morphology consistent with acanthocytes are observed.
Figure 2.
Smear image of the same sample after 7 hours of aging in EDTA, showing > 90% acanthocytes in the case compared with < 50% in the control.
Figure 3.
Brain magnetic resonance imaging (MRI). Coronal T2-weighted ( A ), axial fluid-attenuated inversion recovery (FLAIR) ( B ) and axial susceptibility-weighted ( C ) images demonstrate a clear reduction in brain volume, unexpected for age. One can also appreciate relevant atrophy of the head of both caudate nuclei (arrowheads in A). There is T2/FLAIR hyperintensity of the lentiform nuclei (arrows in B ), together with abnormal iron deposition for age, seen as hypointensity in susceptibility-weighted image (arrows in C ), signaling some degree of neurodegeneration.
Funding Statement
Funding The authors declare that they did receive funding from Hospital das Clíicas, at Universidade de São Paulo (USP), to conduct the present study.
Conflict of Interest The authors have no conflict of interest to declare.
Authors' Contributions
Conceptualization: FF; Investigation: LPL, SNQB, ILVC, LTL; Methodology: FF; Project administration: LPL, FF; Supervision: EAM, LTL; Validation: EAM, ILVC, JBP, LTL; Visualization: EAM, LRM, SNQB; Writing – original draft: LPL; Writing – review & editing: LPL, LRM, ILVC, LTL, FF.
Data Availability Statement
Data will be available upon request to the corresponding author.
Ethical Considerations
Written informed consent was obtained from the patient's legal guardian.
Use of Artificial Intelligence
The authors declare that no artificial intelligence tools were used in the preparation of this manuscript.
References
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
Data will be available upon request to the corresponding author.