Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder

This report describes a case of a 22 months Chinese boy with COPA syndrome bearing the c.715G > C (p.A239P) genotype. In addition to interstitial lung diseae, he also suffered from recurrent chilblain-like rashes, which has not been previously reported, and neuromyelitis optica spectrum disorder...

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Autores principales: Li, Xiao, Tang, Yu, Zhang, Lei, Wang, Yuan, Zhang, Weihua, Wang, Ying, Shen, Yuelin, Tang, Xiaolei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034176/
https://www.ncbi.nlm.nih.gov/pubmed/36969269
http://dx.doi.org/10.3389/fped.2023.1118097
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author Li, Xiao
Tang, Yu
Zhang, Lei
Wang, Yuan
Zhang, Weihua
Wang, Ying
Shen, Yuelin
Tang, Xiaolei
author_facet Li, Xiao
Tang, Yu
Zhang, Lei
Wang, Yuan
Zhang, Weihua
Wang, Ying
Shen, Yuelin
Tang, Xiaolei
author_sort Li, Xiao
collection PubMed
description This report describes a case of a 22 months Chinese boy with COPA syndrome bearing the c.715G > C (p.A239P) genotype. In addition to interstitial lung diseae, he also suffered from recurrent chilblain-like rashes, which has not been previously reported, and neuromyelitis optica spectrum disorder (NMOSD), which is a very rare phenotype. Clinical manifestations expanded the phenotype of COPA syndrome. Notably, there is no definitive treatment for COPA syndrome. In this report, the patient has achieved short-term clinical improvement with sirolimus.
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spelling pubmed-100341762023-03-24 Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder Li, Xiao Tang, Yu Zhang, Lei Wang, Yuan Zhang, Weihua Wang, Ying Shen, Yuelin Tang, Xiaolei Front Pediatr Pediatrics This report describes a case of a 22 months Chinese boy with COPA syndrome bearing the c.715G > C (p.A239P) genotype. In addition to interstitial lung diseae, he also suffered from recurrent chilblain-like rashes, which has not been previously reported, and neuromyelitis optica spectrum disorder (NMOSD), which is a very rare phenotype. Clinical manifestations expanded the phenotype of COPA syndrome. Notably, there is no definitive treatment for COPA syndrome. In this report, the patient has achieved short-term clinical improvement with sirolimus. Frontiers Media S.A. 2023-03-09 /pmc/articles/PMC10034176/ /pubmed/36969269 http://dx.doi.org/10.3389/fped.2023.1118097 Text en © 2023 Li, Tang, Zhang, Wang, Zhang, Wang, Shen and Tang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Li, Xiao
Tang, Yu
Zhang, Lei
Wang, Yuan
Zhang, Weihua
Wang, Ying
Shen, Yuelin
Tang, Xiaolei
Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder
title Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder
title_full Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder
title_fullStr Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder
title_full_unstemmed Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder
title_short Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder
title_sort case report: copa syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034176/
https://www.ncbi.nlm.nih.gov/pubmed/36969269
http://dx.doi.org/10.3389/fped.2023.1118097
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