Blau syndrome following a bacterial infection.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2020 Apr

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An 11-month-old girl presented with dermatitis, boggy arthritis, and keratitis shortly after her hospitalization for bacterial pneumonia. A skin biopsy and genetic testing led to a diagnosis of Blau syndrome. Her symptoms persisted despite a stepwise increase in immune-modulating therapies. Her ocular findings advanced to include bilateral panuveitis, optic disk edema, and hypopigmented chorioretinitis. We speculate that the bacterial infection triggered an inflammatory reaction throughout her body that was facilitated by the pathogenic NOD2 variant. Copyright © 2020 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Citation

Ahmad Sidiqi, Victor Pegado. Blau syndrome following a bacterial infection. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2020 Apr;24(2):118-120