Case report: Von Hippel-Lindau syndrome with multisystem involvement: a therapeutic dilemma

TL;DR

This case report details a rare and complex case of VHL syndrome with multiple health issues and the challenges in treating it.

Contribution

The paper presents a unique case of VHL syndrome type 2B with multisystem involvement and outlines a treatment strategy based on MDT discussions.

Findings

The patient had Stanford type B aortic dissection, pheochromocytoma, RCC, cerebellar hemangioblastoma, and visceral cysts.

Treatment decisions required balancing urgent aortic repair with risks from pheochromocytoma and cerebellar surgery.

MDT discussions led to a preliminary treatment strategy emphasizing early recognition and systematic management.

Abstract

We present a rare case of von Hippel-Lindau (VHL) syndrome type 2B, characterized by multisystem involvement including Stanford type B aortic dissection, pheochromocytoma, renal cell carcinoma (RCC), cerebellar hemangioblastoma with obstructive hydrocephalus, and extensive visceral cysts. This case highlights critical therapeutic dilemmas: urgent aortic repair versus risks of catecholamine surge from pheochromocytoma resection, and neurosurgical hazards of cerebellar lesions. We describe the diagnostic and therapeutic challenges associated with VHL syndrome, culminating in the development of a preliminary treatment strategy following multidisciplinary team (MDT) discussions. This study underscores the critical importance of early recognition and systematic MDT management to optimize clinical outcomes in VHL syndrome.

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