Endocrine Abstracts

Introduction

Von Hippel-Lindau (VHL) syndrome is an autosomal dominant disease resulting in a susceptibility to develop central nervous system and retinal hemangioblastomas, endolymphatic sac tumors, renal clear cell carcinoma and pheochromocytoma. Pheochromocytoma occurs usually at a younger age and tends to be bilateral in VHL syndrome. Herein, we describe a case of VHL syndrome with cerebellar hemangioblastoma, bilateral pheochromocytoma and kidney tumor.

Case report

A 34-year-old woman was operated on a cystic axial cerebellar tumor revealed by a high intracranial pressure syndrome, which was confirmed to be a cerebellar hemangioblastoma. She was referred to our department for complementary investigations. On physical examination, she had a triad including headaches, palpitations and diaphoresis. She had a blood pressure of 150/90 mmHg with orthostatic hypotension. On laboratory investigations, she had an iron deficiency anemia, a thrombocytosis, an elevated chromogranin A at 404 ng/ml (4 times normal) and urinary fractionated metanephrines superior to 3 times normal. The adrenal computed tomography scan found a 43 * 49 * 51 mm adenoma in the right adrenal gland and 38 * 44 * 68 mm in the left one, and 123I-metaiodobenzylguanidine (MIBG) scintigraphy detected a bilateral uptake confirming the diagnosis of bilateral pheochromocytoma. The other manifestations of VHL syndrome were assessed, eliminating a retinal hemangioblastoma, endolymphatic sac tumors, and founding a 15 mm kidney tumor. Genetic testing confirmed the diagnosis of VHL syndrome. She was operated on with bilateral adrenalectomy and histology confirming the complete surgery of a bilateral pheochromocytoma with PASS = 2. In post-operative evaluation, the patient didn’t have any symptoms and was no longer hypertensive.

Conclusion

This case highlights the importance of screening all manifestations associated with VHL syndrome to initiate an early treatment for all tumors, cerebellar, adrenal and renal in our patient. The follow-up must be done for the patient and her family, and imaging in our case must reassess any pancreatic mass, especially if chromogranin a remains elevated, considering the possibility of pancreatic neuroendocrine tumor.