CBL syndrome presenting with severe EBV infection and panuveitis masquerade.

• Tác giả: Stéphane Abramowicz, Bahram Bodaghi, Inès Chabbi, Christine Fardeau, Sara Touhami
• Ngôn ngữ: eng
• Thông tin xuất bản: United States : European journal of ophthalmology , 2025
• Bộ sưu tập: NCBI
• ID: 601539

Tóm tắt

PURPOSE: To describe a case of CBL syndrome presenting with life-threatening pediatric Epstein-Barr virus (EBV) infection and sight-threatening rod-cone dystrophy (RCD) masquerading as severe panuveitis. METHODS: Single case report with results of whole-exome sequencing (WES) analysis in the proband and his parents. Data were collected from July 2009 to December 2022. RESULTS: A 35-month-old boy presented with severe primary EBV infection complicated by encephalitis and hemophagocytic lymphohistiocytosis. The clinical picture abated with systemic corticosteroids. Genetic testing revealed a heterozygous germline pathogenic variant in the CONCLUSIONS: CBL syndrome can present with severe EBV infection early in life. RCD masquerading as severe panuveitis is also a possible feature of CBL syndrome. RCD should be kept in mind in patients with this syndrome who present with idiopathic intraocular inflammation and are refractory to IMT. Carbonic anhydrase inhibitors (CAI) should be tried early to treat CME.