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“Face of a Giant Panda” and “Beating Wings” in a Young Male

Mutations in the gene coding for ATPase copper transporting beta polypeptide (ATP7B) cause Wilson's disease, located on chromosome 13. It has mainly hepatic and neurological presentations. Movement disorders are a characteristic finding in Wilson's disease, and “wing-beating tremors” are c...

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Detalles Bibliográficos
Autores principales: Arora, Navneet, Wasti, Kushal, Suri, Vikas, Malhotra, Pankaj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8941676/
https://www.ncbi.nlm.nih.gov/pubmed/35371680
http://dx.doi.org/10.7759/cureus.22429
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author Arora, Navneet
Wasti, Kushal
Suri, Vikas
Malhotra, Pankaj
author_facet Arora, Navneet
Wasti, Kushal
Suri, Vikas
Malhotra, Pankaj
author_sort Arora, Navneet
collection PubMed
description Mutations in the gene coding for ATPase copper transporting beta polypeptide (ATP7B) cause Wilson's disease, located on chromosome 13. It has mainly hepatic and neurological presentations. Movement disorders are a characteristic finding in Wilson's disease, and “wing-beating tremors” are classical characteristics found on physical examination. We came across and managed a case of Wilson's disease with primarily neurological presentation with classical wing-beating tremors and “face of a giant panda” on radiology. As the patient had very typical findings and he also improved with the treatment, it will be beneficial to the clinicians in their daily practice to identify the disease seeing these clinical findings.
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spelling pubmed-89416762022-03-31 “Face of a Giant Panda” and “Beating Wings” in a Young Male Arora, Navneet Wasti, Kushal Suri, Vikas Malhotra, Pankaj Cureus Internal Medicine Mutations in the gene coding for ATPase copper transporting beta polypeptide (ATP7B) cause Wilson's disease, located on chromosome 13. It has mainly hepatic and neurological presentations. Movement disorders are a characteristic finding in Wilson's disease, and “wing-beating tremors” are classical characteristics found on physical examination. We came across and managed a case of Wilson's disease with primarily neurological presentation with classical wing-beating tremors and “face of a giant panda” on radiology. As the patient had very typical findings and he also improved with the treatment, it will be beneficial to the clinicians in their daily practice to identify the disease seeing these clinical findings. Cureus 2022-02-21 /pmc/articles/PMC8941676/ /pubmed/35371680 http://dx.doi.org/10.7759/cureus.22429 Text en Copyright © 2022, Arora et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Arora, Navneet
Wasti, Kushal
Suri, Vikas
Malhotra, Pankaj
“Face of a Giant Panda” and “Beating Wings” in a Young Male
title “Face of a Giant Panda” and “Beating Wings” in a Young Male
title_full “Face of a Giant Panda” and “Beating Wings” in a Young Male
title_fullStr “Face of a Giant Panda” and “Beating Wings” in a Young Male
title_full_unstemmed “Face of a Giant Panda” and “Beating Wings” in a Young Male
title_short “Face of a Giant Panda” and “Beating Wings” in a Young Male
title_sort “face of a giant panda” and “beating wings” in a young male
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8941676/
https://www.ncbi.nlm.nih.gov/pubmed/35371680
http://dx.doi.org/10.7759/cureus.22429
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