Orbital Diffuse Large B-Cell Lymphoma Masquerading as Periorbital Cellulitis in a Paediatric Patient With Ataxia-Telangiectasia: A Case Report.
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Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterised by cerebellar ataxia, combined immunodeficiency and elevated predisposition to lymphoid malignancy, rendering orbital malignancy clinically and radiologically indistinguishable from infection. We report a 7-year-old female with A-T presenting with left periorbital cellulitis unresponsive to prolonged antimicrobial therapy, surgical drainage and antifungal escalation. Incisional biopsy of a persistent periorbital mass revealed diffuse large B-cell lymphoma (DLBCL), confirmed on immunohistochemistry. Staging indicated Lugano-modified Ann Arbour Stage IV disease, with a primary orbital mass and non-contiguous mediastinal and abdominal disease on cross-sectional imaging. Bone marrow assessment showed no morphological involvement, although flow cytometry detected a light chain-restricted B-cell population. The pulmonary lesions could not be radiologically distinguished from necrotising infection. She received R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone) with cyclophosphamide and vincristine reduced to approximately 50% of standard doses but died approximately 2 months after diagnosis, following a severe necrotising pulmonary infection after the second treatment cycle. This case underscores the importance of early malignancy consideration in immunocompromised A-T patients with refractory orbital disease, the critical role of timely tissue biopsy and the diagnostic difficulty of distinguishing lymphomatous involvement from infection on imaging alone in this population.