Pheochromocytoma in von Hippel-Lindau disease

Abstract

A 70-year old female was admitted to the hospital because of hypertension increased sweating and weight loss. The hypertension was sustained. Five months before admission CT scan of the abdomen had revealed a well-defined right adrenal mass together with left kidney tumor. A magnetic resonance imaging of the abdomen confirmed the presence of the right adrenal and left kidney masses, but also showed another tumor in the pancreas between the body and the tail. Urinary 24-hour noradrenaline was grossly elevated and confirmed the diagnosis of pheochromocytoma. 131I-metaiodobenzylgvanidine (MIBG) scintiscan showed increased MIBG uptake in the right adrenal gland. After pre-treatment with phenoxybenzamine 30 mg daily, the patient was operated, and the right adrenalectomy was done. Histopathological examination revealed encapsulated adrenal pheochromocytoma without infiltrative characteristics and lymph node metastasis. After the operation hypertension was controlled easily with amlodipine. The patient was discharged for recovery. Ulteriorly, SSCP (single strand conformational polymorphism) method detected a point mutation in the third exon of the VHL (von Hippel-Linday) gene. It was decided to follow up the patient with the von Hippel-Lindau disease, while waiting for the results of the sequence analysis to confirm that the found mutation is not associated with renal cancer.

Keywords

• Hippel-Lindau disease
• germ-line mutation
• pheochromocytoma