A RARE CASE OF VON HIPPEL LINDAU SYNDROME PRESENTING AS HYPERTENSIVE URGENCY.

Abstract

Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominant hereditary disorder characterized by the development of multiple benign and malignant tumours across various organ systems, including the central nervous system, retina, adrenal glands, kidneys, and pancreas. Early diagnosis is often challenging due to its variable presentation and age-dependent penetrance. We present a case of a 21-year-old male who presented with hypertensive urgency, along with a history of childhood retinal surgery and a positive family history suggestive of a hereditary syndrome. Laboratory investigations revealed elevated plasma and urinary metanephrines, and subsequent imaging using contrast-enhanced CT and DOTANOC PET-CT scans identified somatostatin receptor-expressing lesions in the right adrenal gland, pancreatic head, and prevertebral region. The patient underwent successful right adrenalectomy following preoperative alpha-blockade, with significant clinical improvement. Based on the clinical, biochemical, radiological findings, and family history, a diagnosis of VHL syndrome was established. This case highlights the importance of considering VHL syndrome in young patients presenting with secondary hypertension and syndromic features. Timely recognition, genetic evaluation, and surveillance are crucial in reducing morbidity associated with this multisystem disorder.