Incidental Detection of Wyburn-Mason Syndrome Mimicking Extranodal Involvement in a Patient with Hodgkin Lymphoma: A Diagnostic Challenge

A Rare Pediatric Case Linking a Congenital Vascular Malformation and Malignancy

Abstract

Background:
Wyburn-Mason syndrome (WMS) is an extremely rare, non-hereditary congenital neurocutaneous disorder characterized by arteriovenous malformations (AVMs) involving the retina, midbrain, and occasionally facial structures. It may be asymptomatic or present incidentally during imaging for other conditions. A 16-year-old girl was diagnosed with stage IIB nodular sclerosis-type Hodgkin lymphoma. During staging, PET-CT showed increased FDG uptake and thickening along the left optic nerve, suggesting possible extranodal involvement. Orbital MRI revealed a stable vascular malformation consistent with Wyburn-Mason syndrome. The patient received chemotherapy and radiotherapy according to the EuroNet-PHL-C1 protocol, with no change in the optic lesion on follow-up MRI. The coexistence of WMS and Hodgkin lymphoma is extremely rare, and this is the first reported pediatric case in which the congenital vascular malformation mimicked malignant infiltration on PET-CT. This case highlights the importance of correlating metabolic and anatomic imaging findings in oncologic staging. Congenital vascular anomalies such as Wyburn-Mason syndrome can resemble malignant infiltration, potentially leading to overstaging and overtreatment if not correctly identified. Multimodal radiologic evaluation is essential to ensure accurate diagnosis and management in pediatric oncology practice.