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Chorea-acanthocytosis: a case report

Authors Lekhjung Thapa L, Bhattarai S, Shrestha MP, Panth R, Gongal D, Devkota U

Received 6 September 2015

Accepted for publication 9 December 2015

Published 23 February 2016 Volume 2016:9 Pages 39—42


Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Yusuke Okuma

Peer reviewer comments 4

Editor who approved publication: Professor Ronald Prineas

Video abstract presented by Lekhjung Thapa

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Lekhjung Thapa,1 Suman Bhattarai,1 Milan P Shrestha,1 Rajesh Panth,2 Dinesh Nath Gongal,3 Upendra Prasad Devkota,3

1Department of Neurology, 2Department of Pathology, 3Department of Neurosurgery, National Institute of Neurological and Allied Sciences, Kathmandu, Nepal

Abstract: Neuroacanthocytosis is a group of rare disorders. We report a 36-year-old right-handed female who presented with gradually progressive abnormal facial movements, generalized weakness, and lower-lip biting starting 4 years ago. On examination, she had lower-lip ulcer, orofacial dyskinesias, and peripheral neuropathy. Her peripheral blood smears showed acanthocytosis and magnetic resonance imaging revealed atrophied head of caudate nuclei and putaminal hyperintensities on T2-weighted and fluid attenuated inversion recovery images. Work-up for autoimmune and metabolic causes was negative. She was diagnosed with chorea-acanthocytosis, an entity under neuroacanthocytosis syndrome and the patient was offered symptomatic treatment.

Keywords: acanthocytes, lip-biting, neuroacanthocytosis, orofacial dyskinesia, movement disorder

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