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

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.

Keywords: Cerebellar hemangioblastoma; Pheochromocytoma; Von-Hipple-Lindau disease.

Fig. 1

Closed arrow pointing at the right adrenal lesion.

Fig. 2

Closed arrow showing the lesion in the upper pole of the right kidney.

Fig. 3

Closed arrow showing the lesion in the upper pole of the left kidney.

Fig. 4

Open arrow showing right renal cortical cyst.

Fig. 5

Open arrow showing pancreatic cyst in body of pancreas.

Fig. 6

T1 Coronal postcontrast image of brain at the level of right brachium pontis. The image demonstrated a cystic lesion with enhancing eccentric mural nodule suggestive of hemangioblastoma.

Fig. 7

Histopathology of renal mass (upper 2 figures) suggestive of clear cell renal cell carcinoma. Histopathology of adrenal mass (lower 2 figures) suggestive of pheochromocytoma.