- Ataxia-telangiectasia causes severe immunodeficiency and markedly increased malignancy risk, exemplified by non-Hodgkin B-cell lymphoma in this child.
- Orbital lymphoma may present as periorbital swelling resembling preseptal cellulitis, delaying diagnosis due to presumed infection.
- In immunocompromised patients with atypical course and negative microbiology, early reassessment with repeat imaging and prompt biopsy is essential.
BMJ Case Rep. 2026 Sep 17;19(9):e275016. doi: 10.1136/bcr-2026-275016.
ABSTRACT
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder associated with immunodeficiency and an increased risk of malignancy. We report a young child with AT and severe combined immunodeficiency who initially presented with left periorbital swelling and was treated for a presumed periorbital infection. She later presented with fever and was diagnosed with pneumonia, requiring admission. Despite antimicrobial therapy and surgical drainage, the swelling persisted and progressed rapidly.MRI of the brain and orbits demonstrated complicated sinusitis with a medial extraconal lesion, suggesting an infectious process. However, there was no sustained clinical response, and microbiological studies remained negative. Repeat MRI showed a persistent lesion with extension into adjacent structures. Histopathological examination confirmed non-Hodgkin B-cell lymphoma with a high proliferative index (Ki-67~80%).This case highlights the importance of early reassessment in immunocompromised patients with an atypical clinical course.
PMID:42754351 | DOI:10.1136/bcr-2026-275016
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