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Blau syndrome with persistent fetal vasculature: a case report

BACKGROUND: Blau Syndrome (BS) is a rare autosomal dominant noncaseous granulomatous disease caused by mutations in the NOD2 gene. The disease is characterized by granulomatous dermatitis, symmetrical arthritis, and uveitis, which, if left untreated, can progress to blindness. The diagnosis of BS ca...

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Autores principales: Liu, Miao, Zeng, Yong, Zhong, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10311772/
https://www.ncbi.nlm.nih.gov/pubmed/37386644
http://dx.doi.org/10.1186/s13256-023-03983-1
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author Liu, Miao
Zeng, Yong
Zhong, Jie
author_facet Liu, Miao
Zeng, Yong
Zhong, Jie
author_sort Liu, Miao
collection PubMed
description BACKGROUND: Blau Syndrome (BS) is a rare autosomal dominant noncaseous granulomatous disease caused by mutations in the NOD2 gene. The disease is characterized by granulomatous dermatitis, symmetrical arthritis, and uveitis, which, if left untreated, can progress to blindness. The diagnosis of BS can be challenging because of its rarity and overlap with other rheumatologic disorders. Early detection of ocular involvement is critical to prevent vision loss and improve the prognosis of patients with BS. CASE PRESENTATION: In this report, we present a case of a five-year-old Chinese girl diagnosed with BS one year ago after presenting with a systemic rash and urinary calculi. Genetic testing was recommended by a physician, and a heterozygous mutation of the NOD2 gene c.1538T > C (p.M513T) was identified. Eight months ago, due to bilateral corneal punctate opacity, we had examined and diagnosed bilateral uveitis, bilateral corneal zonal degeneration, persistent fetal vasculature (PFV) in the right eye, and perivascular granuloma in the right eye. As a result, Vitrectomy was performed on the right eye, resulting in a significant improvement in visual acuity from 1/50 on the first day after surgery to 3/10 after 1 week. After 6 months, the visual acuity of the right eye was maintained at 3/20, but opacification of the lens posterior capsule was observed. Follow-up appointments are ongoing to monitor the condition of the affected eyes. Our report underscores the importance of prompt detection and management of ocular involvement in BS accompany with PFV to prevent vision loss and improve patient outcomes. CONCLUSIONS: This report details the case of a child diagnosed with BS who accompanied a periretinal granuloma and PFV in the right eye. Regrettably, the left eye was observed to have no light perception (NLP) with the fundus not being visible. The occurrence of ocular complications in patients with BS, must be closely monitored to prevent vision loss and enhance treatment outcomes. This case underscores the importance of prompt diagnosis and management of ocular complications in patients with BS to prevent further damage and optimize patient outcomes.
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spelling pubmed-103117722023-07-01 Blau syndrome with persistent fetal vasculature: a case report Liu, Miao Zeng, Yong Zhong, Jie J Med Case Rep Case Report BACKGROUND: Blau Syndrome (BS) is a rare autosomal dominant noncaseous granulomatous disease caused by mutations in the NOD2 gene. The disease is characterized by granulomatous dermatitis, symmetrical arthritis, and uveitis, which, if left untreated, can progress to blindness. The diagnosis of BS can be challenging because of its rarity and overlap with other rheumatologic disorders. Early detection of ocular involvement is critical to prevent vision loss and improve the prognosis of patients with BS. CASE PRESENTATION: In this report, we present a case of a five-year-old Chinese girl diagnosed with BS one year ago after presenting with a systemic rash and urinary calculi. Genetic testing was recommended by a physician, and a heterozygous mutation of the NOD2 gene c.1538T > C (p.M513T) was identified. Eight months ago, due to bilateral corneal punctate opacity, we had examined and diagnosed bilateral uveitis, bilateral corneal zonal degeneration, persistent fetal vasculature (PFV) in the right eye, and perivascular granuloma in the right eye. As a result, Vitrectomy was performed on the right eye, resulting in a significant improvement in visual acuity from 1/50 on the first day after surgery to 3/10 after 1 week. After 6 months, the visual acuity of the right eye was maintained at 3/20, but opacification of the lens posterior capsule was observed. Follow-up appointments are ongoing to monitor the condition of the affected eyes. Our report underscores the importance of prompt detection and management of ocular involvement in BS accompany with PFV to prevent vision loss and improve patient outcomes. CONCLUSIONS: This report details the case of a child diagnosed with BS who accompanied a periretinal granuloma and PFV in the right eye. Regrettably, the left eye was observed to have no light perception (NLP) with the fundus not being visible. The occurrence of ocular complications in patients with BS, must be closely monitored to prevent vision loss and enhance treatment outcomes. This case underscores the importance of prompt diagnosis and management of ocular complications in patients with BS to prevent further damage and optimize patient outcomes. BioMed Central 2023-06-30 /pmc/articles/PMC10311772/ /pubmed/37386644 http://dx.doi.org/10.1186/s13256-023-03983-1 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Liu, Miao
Zeng, Yong
Zhong, Jie
Blau syndrome with persistent fetal vasculature: a case report
title Blau syndrome with persistent fetal vasculature: a case report
title_full Blau syndrome with persistent fetal vasculature: a case report
title_fullStr Blau syndrome with persistent fetal vasculature: a case report
title_full_unstemmed Blau syndrome with persistent fetal vasculature: a case report
title_short Blau syndrome with persistent fetal vasculature: a case report
title_sort blau syndrome with persistent fetal vasculature: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10311772/
https://www.ncbi.nlm.nih.gov/pubmed/37386644
http://dx.doi.org/10.1186/s13256-023-03983-1
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