Blau Syndrome Complicated by Atypical Type IIa Takayasu Arteritis

نویسندگان

چکیده

Abstract Blau syndrome (BS) is a rare, autosomal dominant monogenic autoinflammatory disease, usually presenting as triad of symptoms (granulomatous dermatitis, uveitis, and nonerosive arthritis) caused by gain-of-function mutations in the nucleotide oligomerization domain 2 (NOD2) gene. However, very few reports children copresence BS with large vessel vasculitis exist. We hereby describe case associated clinical features Takayasu arteritis. An 8.5-year-old boy presented hypertension, cardiac insufficiency, arthritis, ocular disease. Among other investigations, he underwent cervical chest computed tomography angiography scans that revealed presence type IIa arteritis lesions. Genetic analysis heterozygous mutation NOD2 gene leading to amino acid exchange Arg-587-Cys NACHT protein (R587C) pathogenic cause BS. He received treatment prednisolone, methotrexate, infliximab (antitumor necrosis factor-α) addition antihypertensive medication favorable response. Cases should be investigated for coexistence further research required delineate possible common mechanism between two entities.

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ژورنال

عنوان ژورنال: Journal of child science

سال: 2021

ISSN: ['2474-5871']

DOI: https://doi.org/10.1055/s-0041-1740463