Von Hippel-Lindau Disease

Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumour syndrome as a result of the germline mutation of the VHL tumour suppressor gene on the short arm of chromosome 3 (1,2). Affected patients are at risk of developing various benign and malignant tumours of the various organs including central nervous system, kidneys, adrenal glands, pancreas and adnexial organs (1-3). In VHL cases, pheochromocytoma has an earlier onset than that of in sporadic forms. Pheochromocytoma in such patients is usually multiple and malignancy is less frequently developed (4).
Pheochromocytomas and paragangliomas are paraganglial tumours which can occur in any paraganglia. Pheochromocytoma is also called 10% tumors. 10% is extraadrenal, 10% bilateral, 10% familial, 10% malignant and 10% have autosomal dominant transmission. Diagnosis of pheochromocytoma depends on laboratory findings like serum and urine catecholamines. Imaging findings are helpful in localizing the tumor and planning the surgery.

Pheochromocytomas on CT are well defined, round and homogenous mass with marked homogeneous enhancement. Administration of non-ionic contrast in patients with pheochromocytoma is not contraindicated. On MRI, pheochromocytoma are low and high on T1 and T2 weighted images. This appearance is secondary to many cysts and hemorrhage within the tumor. Light bulb appearance described in the older books is very rare and is seen in less than 80% of patients.