Yeşim YİĞİT, Celal ÇINAR, Seher BAHAR, Ali Aykan ÖZGÜVEN
The Journal of Pediatric Academy - 2026;7(1):47-49
Wyburn-Mason syndrome (WMS) is an extremely rare congenital, non-hereditary neurocutaneous disorder characterized by arteriovenous malformations (AVMs) involving the retina, midbrain, and occasionally the facial structures. Although often asymptomatic, such vascular anomalies may incidentally mimic malignant lesions on functional imaging. A sixteen-year-old girl was diagnosed with stage IIB nodular sclerosis-type Hodgkin lymphoma (HL). During initial staging, positron emission tomography-computed tomography (PET-CT) revealed increased fluorodeoxyglucose uptake and thickening along the left optic nerve, suggesting extranodal involvement. Orbital magnetic resonance imaging demonstrated a stable vascular lesion consistent with WMS. No histopathologic confirmation was possible due to the lesion's location. Following standard European Network for Paediatric HL-C1 therapy (oncovin, etoposide, prednisone, adriamycin / cyclophosphamide, oncovin, prednisone, dacarbazine) and standard involved-site radiotherapy, the lesion remained unchanged. To our knowledge, the coexistence of WMS and HL has not been previously reported. This case highlights the diagnostic challenge posed by congenital AVMs that can mimic malignant infiltration on functional imaging. Recognition of this potential overlap is crucial to avoid overstaging and unnecessary therapeutic escalation. This case highlights a diagnostic pitfall in pediatric oncology and emphasizes the importance of correlating multimodal imaging findings to differentiate congenital vascular malformations from malignant extranodal disease, thereby avoiding overstaging or unnecessary treatment escalation.
