The importance of genetic study and long-term management in patients with bilateral pheochromocytomas

Abstract

Tumors secreting catecholamines, such as pheochromocytomas and paragangliomas, are rare and life-threatening, due to their complications. They can be sporadic or occur in genetic syndromes, such as von Hippel-Lindau in which pheochromocytomas are observed in 10 to 20%. We report a case of a 42 years old male, who was sent in 2016 to our department for neurological symptoms related to cerebellar and central vestibular syndromes.  His medical history revealed that at 8 years old he was operated for a symptomatic bilateral pheochromocytoma discovered by adrenergic symptoms and high blood pressure. Cerebral MRI showed intra- and extra-axial, supra- and infratentorial lesions causing supratentorial hydrocephalus associated with leptomeningeal dissemination deemed to be hemangioblastomas. One year later the patient started complaining of chronic diarrhea. The abdominal CT revealed three pancreatic tumors with radiological signs of pancreatic neuroendocrine tumors (PNETs) and a 12 mm mesenteric nodule presenting as a homogenously and typical for NET. The largest PNET had intensive fixation on octreotide scintigraphy. The association of pheochromocytomas, hemangioblastoma and pancreatic neuroendocrine tumors highlighted the diagnosis of VHL syndrome. The family history proved positive in a sibling with bilateral pheochromocytoma in infancy, retinal hemangioblastomas and cerebral hemangioblastoma. Genetic testing would have been useful, but in our case, it was lacking due to poor socio-economic conditions of the patient and absence of genetic testing in public hospitals.