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A Boy With Blau Syndrome Misdiagnosed as Refractory Kawasaki Disease

Authors
 Kyungwon Cho  ;  Yoonsun Yoon  ;  Joon-sik Choi  ;  Sang Jin Kim  ;  Hirokazu Kanegane  ;  Yae-Jean Kim 
Citation
 Pediatric Infection & Vaccine, Vol.29(3) : 166-172, 2022-12 
Journal Title
Pediatric Infection & Vaccine
ISSN
 2384-1079 
Issue Date
2022-12
Keywords
Skin rash ; Uveitis ; Arthritis ; Sarcoidosis ; Kawasaki disease
Abstract
Blau syndrome is a systemic autoinflammatory disease presenting with non-caseating granulomatous dermatitis, chronic uveitis, and arthritis. It is caused by a gain-of-function variant of the nucleotide-binding oligomerization domain protein 2 gene, which leads to the overactivation of inflammatory cytokines and eventually causes autoinflammation. Since the symptoms of Blau syndrome are nonspecific and usually do not appear simultaneously, it is challenging to differentiate Blau syndrome from other inflammatory disorders. This is a case report of a 13-month-old boy who had suffered from recurrent skin rash and fever. The patient was previously misdiagnosed as refractory Kawasaki disease twice and was treated with intravenous immunoglobulin and systemic glucocorticoid, which only resulted in transient improvement of the symptoms. He was eventually diagnosed with Blau syndrome.
Files in This Item:
T9992022737.pdf Download
DOI
10.14776/piv.2022.29.e22
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Choi, Joon Sik(최준식) ORCID logo https://orcid.org/0000-0002-5587-2960
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/193967
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