Endocrine Abstracts

Introduction: Pheochromocytoma is a neuroendocrine tumor that develops in the chromaffin cells of the adrenal medulla. It is a potentially serious pathology that can be responsible for sudden death and also alter quality of life, particularly when it is part of a genetic syndrome. We describe the case of a patient with neurofibromatosis type 1 with severe visual acuity impairment secondary to optic nerve glioma.

Observation: This 20-year-old patient was diagnosed with pheochromocytoma as part of the investigation of secondary arterial hypertension. A meticulous examination revealed several lentiginous skin lesions, several neurofibromas and cafés au lait spots, enabling us to classify the pheochromocytoma as part of neurofibromatosis type 1. In addition, the patient presented with severely impaired visual acuity, with papilledema at the fundus, which prompted a chorioorbital MRI in favor of an optic nerve glioma, one of the manifestations of neurofibromatosis. The patient underwent both types of treatment, with marked clinical and biological improvement.

Discussion: Pheochromocytoma is a serious pathology that can be life-threatening and functionally compromising. Once this pathology has been diagnosed, management must be based both on hemodynamic emergencies and on genetic studies, in order to manage certain disorders that are part of this genetic syndrome at an earlier stage.