Von Hippel Lindau Disease with central nervous system and multiple visceral manifestations: A case report.

Publication/Presentation Date

12-1-2023

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal-dominant syndrome caused by mutations in the VHL gene, located on the short arm of chromosome 3. Patients with VHL are likely to manifest with a spectrum of multiple benign and malignant tumors involving various organ systems. We present a case of a 28-year-old female without a remarkable family history who presented with complaints of hematuria and abdominal discomfort. Initial laboratory investigations confirmed hematuria. Subsequent abdominal computed tomography scan revealed heterogeneous enhancing solid mass in bilateral kidneys, avidly enhancing mass in the right adrenal gland, bilateral simple renal cortical cysts, and a pancreatic cyst. With a provisional diagnosis of VHL disease, an MRI of the brain and spine was performed, which showed the presence of a cerebellar hemangioblastoma. Her catecholamine and vanillylmandelic acid levels were in the normal range not in line with pheochromocytoma. The patient then underwent bilateral partial renal nephrectomy and right adrenalectomy. Histopathologic examination reported clear renal cell carcinoma and pheochromocytoma of the right adrenal gland mass. Molecular genetic testing confirmed the presence of VHL disease.

Volume

18

Issue

12

First Page

4357

Last Page

4362

ISSN

1930-0433

Disciplines

Medicine and Health Sciences

PubMedID

37823048

Department(s)

Department of Medicine Fellows and Residents, Fellows and Residents

Document Type

Article

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