Cargando…
“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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1784673151435669504 |
---|---|
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. |
format | Online Article Text |
id | pubmed-8941676 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT aroranavneet faceofagiantpandaandbeatingwingsinayoungmale AT wastikushal faceofagiantpandaandbeatingwingsinayoungmale AT surivikas faceofagiantpandaandbeatingwingsinayoungmale AT malhotrapankaj faceofagiantpandaandbeatingwingsinayoungmale |