Endocrine Abstracts

Introduction: Von Hippel-Lindau disease (VHL) is a hereditary condition that predisposes to the development of benign and malignant tumors due to mutations in the VHL gene. Several clinical manifestations can be observed including the development of hemangioblastomas of the central nervous system and the retina, renal or pancreatic cysts or cancers, or more rarely pheochromocytomas. These affect 10 to 25% of patients, are frequently bilateral and often reveal the disease.

Observation: We report the case of a 26-year-old patient treated since 2013 for a bilateral pheochromocytoma falling within the framework of VHL disease. The diagnosis was retained by observing: clinically, a typical Ménard triad with paroxysmal hypertension, biologically increased methoxylated urinary derivatives, a bilateral adrenal mass revealed by an abdominal CT. The patient underwent bilateral adrenalectomy the same year. Looking at the age of discovery and the bilaterality of the mass, a genetic study was conducted and found a mutation of the VHL gene. During the follow-up, a general assessment was carried out in search of other tumoral localizations, notably a cerebral MRI showing an appearance of cerebellar hemangioblastoma. The fundus oculi did not reveal an abnormality and the abdominal CT did not find any pancreatic nor renal abnormalities.

Conclusion: This clinical case illustrates the interest of carrying out a genetic study in front of any bilateral pheochromocytoma to diagnose possible VHL disease and thus early detect all the associated clinical manifestations and suggest a screening for relatives.