A diagnostic dilemma in pediatric proptosis—from suspected malignancy to benign orbital cavernous venous malformation: a case report

TL;DR

A 3-year-old boy with rapidly worsening eye swelling was diagnosed with a rare benign vascular condition after initial suspicion of cancer.

Contribution

Highlights the diagnostic challenge of distinguishing benign cavernous venous malformation from malignancy in pediatric proptosis.

Findings

Cavernous venous malformation can mimic malignancy due to acute hemorrhage and rapid enlargement.

Histopathology confirmed the benign nature of the lesion despite initial imaging suggesting cancer.

Early multidisciplinary intervention is crucial to prevent vision loss in such cases.

Abstract

Rapidly progressive proptosis in children can be caused by multiple causes. Distinguishing between these is challenging, especially when presentations mimic malignancy.

A healthy Malay 3-year-old boy presented with a 1-week history of painless, progressive left eye proptosis. Initial imaging showed intraconal and extraconal orbital masses with prominent vascular channels, suggesting a vascular lesion. Two weeks later, he developed fever, lethargy, and worsening proptosis. Repeat imaging revealed lesion enlargement with intralesional hemorrhage, displacement of orbital structures, and a dilated superior ophthalmic vein. Differential diagnoses included rhabdomyosarcoma, orbital cellulitis, and venolymphatic malformation. Anterior orbitotomy and debulking were performed, and histopathology confirmed cavernous venous malformations with thrombosed vessels. At 6 months, there was no recurrence, but dense corneal scarring left the visual prognosis uncertain.

Cavernous venous malformation is rare in children and usually progresses slowly. Acute enlargement from intralesional hemorrhage can mimic malignant or infectious disease. In pediatric orbital masses, careful clinical assessment, targeted imaging, and histopathological confirmation remain essential. Early multidisciplinary intervention is key to preserving vision when rapid progression threatens the eye.

Figures