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Abstract

Background: To report a case of paediatric precursor B-cell acute lymphoblastic leukaemia (ALL) presenting as uveitis masquerade syndrome (UMS).

Case presentation: A 3-year-old girl with neutropenic sepsis presented with poor fixation and right preferential gaze. Vision was light perception and counting fingers in OD and OS with bilateral panuveitis, and OS Roth spots, retinal haemorrhages, and exudates. Vitreous biopsy was negative for organisms, malignant cells, and blasts. Bone marrow aspiration and trephine biopsy (BMAT) was inconclusive for leukaemia and orbital MRI showed no infiltration. She improved with antimicrobials and steroids. During rehospitalization 6 months later for neutropenic sepsis, BMAT showed 80% blasts confirming B-cell precursor ALL, requiring chemotherapy. OD vision remained poor with band keratopathy, keratoconjunctivitis sicca, seclusio pupillae, cataract, and vitreous haemorrhage. OS vision improved partially with a macular scar.

Conclusion: Paediatric precursor B-cell ALL may present as UMS. Prompt diagnosis and treatment may increase survival and visual potential.