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

Abstract

Background: Rapidly progressive proptosis in children can be caused by multiple causes. Distinguishing between these is challenging, especially when presentations mimic malignancy. Case presentation: A healthy Malay 3-year-old boy presented with a one-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 dilated superior ophthalmic vein. Differential diagnoses included rhabdomyosarcoma, orbital cellulitis, and venolymphatic malformation (VLM). Anterior orbitotomy and debulking were performed and histopathology confirmed cavernous venous malformations (CVM) with thrombosed vessels. At six months, there was no recurrence, but dense corneal scarring left the visual prognosis uncertain.

Conclusions: CVM 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.