Endocrine Abstracts

Introduction: VonHippel Lindau (VHL) disease is an autosomal dominant disorder, responsible of the occurrence of multiple endocrine and non-endocrine lesions. When it comes to this hereditary syndrom., pheochromocytoma and pancreatic neuroendocrine tumors (pNET) require special monitoring and an appropriate treatment, The object of this case report is to highlight the different clinical presentation of the same lesion in the same patient and the difficulties in decisions’ making when it comes to therapeutic care.

Observation: We report a case of a 40-year-old female patient diagnosed with VHL disease 20 years ago. The first manifestation of this syndrome was a pheochromocytoma in the right adrenal gland which presented with severe hypertension at the time. Genetics tests revealed a miss sens mutation in codon 86 exon 1, which confirmed the disease. During follow up, the patient developed multiples lesions: two cerebellar hemangioblastoma, a medullary and a puituitary stalk hemangioblastoma and multiple pancreatic cysts. In the latest radiological imaging, a new tumor in the left adrenal gland and 2 pancreatic lesions suggesting a pNET were found. The first pancreatic lesion was a 3- cm tumor and the second one was 1.1 cm, located both in the head At the clinical examination, the patient was suffering of paresthesia and pain in both legs due to the growth of the medullary hemangioblastoma, her blood pressure was normal and she did not present any symptoms suggesting a fonctionnal NET. The biological exams showed an elevated 24-h urinary catecholamine levels confirming the pheochromocytoma. Surprisingly, the insulin level was high, even though the patient never presented symptoms of hypoglycemia. An octreoscan was performed and it confirmed the endocrine nature of the first pancreatic lesion. For the treatment, a surgical intervention of the medullary hemangioblastoma was rejected by the neurosurgeons due to the post operative risks on the patient. As for the pheochromocytoma, a partial tumor resection was initially proposed; however, the final decision was a total adrenalectomy, considering the possibility of recurrence of new tumors. And for the pancreas, we opted for a surgical resection of the 3- cm tumor, considering the size and the location of the mass.

Conclusion: Genetic syndrome such as VHL requires a special attention to the evolution of the different lesions. The object of the clinical surveillance will be to decide the proper timing and nature of interventions necessary, to improve early diagnosis and successful treatment of the malignancies.