Abstract
Genetic testing is useful for the diagnosis and surveillance of pheochromocytoma in patients with suspected hereditary disease. We report a case of von Hippel-Lindau (VHL) disease in a woman who was treated with bilateral adrenalectomy and steroid administration and underwent successful pregnancy and delivery. A 35-year-old Japanese woman was diagnosed with bilateral pheochromocytoma at 13 years of age and underwent bilateral adrenalectomy and autotransplantation of the right adrenal cortex. She received steroid hormone replacement therapy and was referred to our hospital at 33 years of age. Blood tests and urinalysis revealed high catecholamine levels. Abdominal computed tomography revealed multiple tumors between the junction of the superior mesenteric artery and the left side of the aorta at the level of the lower kidney, and 131I-metaiodobenzylguanidine scintigraphy revealed uptake at the same sites. Therefore, we diagnosed the patient with recurrent pheochromocytoma and performed successful resection of the tumor, which was histopathologically confirmed as a composite paraganglioma-ganglioneuroma. Early tumor onset and recurrence led to the suspicion of hereditary disease, and genetic testing was performed. She was diagnosed with VHL disease with a c.191G>C (p.Arg64Pro) mutation in the VHL gene. Her pregnancy was detected at the time of this diagnosis, and she received dexamethasone (0.25mg) and hydrocortisone (10mg) throughout the pregnancy and delivery.
