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Orofacial Dyskinesia in a Young Man

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 30-year-old man had involuntary orofaciolingual movements for 7 years and unsteady gait for 2 months. At age 23 years, he began experiencing involuntary orofaciolingual movements and vocalizations. At age 27 years, he developed dysphagia, dysarthria, and involuntary tongue- and lip-biting. This oral dyskinesias worsened while eating. However, a handkerchief in the mouth markedly reduced involuntary tongue-biting and mouth movements. No neuropsychiatric symptoms or seizures were exhibited.

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C. Chorea-acanthocytosis

The patient’s most prominent clinical manifestation was orofacial dyskinesia; therefore, hereditary and secondary dystonia was considered. Wilson disease was excluded because his ceruloplasmin levels were normal. There was no evidence of other metabolic or autoimmune diseases.

Acanthocytes in peripheral blood were a significant feature. This led to the consideration of neuroacanthocytosis and inherited disorders of lipoprotein metabolism (eg, abetalipoproteinemia and hypobetalipoproteinemia); the latter leads to vitamin E malabsorption.1 The prominence of caudate head atrophy indicated several extrapyramidal diseases, including Huntington disease, Huntington disease–like 2 (HDL-2), chorea-acanthocytosis (ChAc), and McLeod syndrome.13 Although his low-density lipoprotein and apolipoprotein B levels decreased, his vitamin E levels were normal; thus, hypobetalipoproteinemia was unlikely. Acanthocytes are not present in Huntington disease, therefore it was excluded.

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Article Information

Corresponding Authors: Fei Xiao, MD (feixiao81@126.com), and Xue-feng Wang, PhD (405034986@qq.com), Chongqing Key Laboratory of Neurology, Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, First You Yi Road, Chongqing 400016, China.

Published Online: September 23, 2019. doi:10.1001/jamaneurol.2019.3072

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information. We thank Ze-song Yang, MD, First Affiliated Hospital of Chongqing Medical University, for conducting the Wright staining of the blood smear. He was compensated for his contribution.

References
1.
Jung  HH, Danek  A, Walker  RH.  Neuroacanthocytosis syndromes.  Orphanet J Rare Dis. 2011;6:68. doi:10.1186/1750-1172-6-68PubMedGoogle ScholarCrossref
2.
Furukawa  F, Ishikawa  K, Yokota  T, Sanjo  N.  Cross-sectional area analysis of the head of the caudate nucleus in Huntington’s disease.  Eur Neurol. 2019;81(1-2):13-18. doi:10.1159/000499909PubMedGoogle ScholarCrossref
3.
Liu  J, Bader  B, Danek  A.  Neuroacanthocytosis in China: a review of published reports.  Tremor Other Hyperkinet Mov (N Y). 2014;4:248.PubMedGoogle Scholar
4.
Walker  RH, Jung  HH, Danek  A.  Neuroacanthocytosis.  Handb Clin Neurol. 2011;100:141-151. doi:10.1016/B978-0-444-52014-2.00007-0PubMedGoogle ScholarCrossref
5.
Singh  P, Saggar  K, Kaur  M, Pannu  DS.  Magnetic resonance imaging in pantothenate kinase-2-associated neurodegeneration.  J Pediatr Neurosci. 2012;7(1):27-29. doi:10.4103/1817-1745.97618PubMedGoogle ScholarCrossref
6.
Anderson  DG, Walker  RH, Connor  M, Carr  J, Margolis  RL, Krause  A.  A systematic review of the Huntington disease-like 2 phenotype.  J Huntingtons Dis. 2017;6(1):37-46. doi:10.3233/JHD-160232PubMedGoogle ScholarCrossref
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