Journal of Laparoendoscopic & Advanced Surgical Techniques · 2006 · 46 citations · 9 references
MedicineEndocrinologySurgeryEndocrine OncologyEndocrine SurgeryNeoplasiaAdrenal DisordersAdrenal EndocrinologyAdrenal SurgeryAdrenal TumorsEndocrine TumorsPheochromocytoma SurgeryCortical-sparing Adrenal SurgeryCortical-sparing AdrenalectomyGermline Mutation AnalysisHereditary Adrenal Tumor SyndromesHereditary PheochromocytomaRobot-assisted AdrenalectomyVon Hippel-lindau DiseaseVon Hippel-lindau Syndrome
Von Hippel-Lindau disease is a heritable syndrome that confers an increased risk of developing various benign and malignant tumors to those with a germline mutation of the tumor suppressor gene. We present a case of a male patient who initially presented at age 9 with headaches, fevers, and fatigue. He was found to have a left pheochromocytoma which was successfully managed with open total adrenalectomy. He presented again at age 18 with a second pheochromocytoma in the right adrenal gland. DNA analysis revealed a de novo Val84Leu mutation in the Von Hippel-Lindau gene, not seen in either parent. The challenge presented was that of balancing the obvious benefits of cortical- sparing adrenalectomy with the risk of tumor recurrence in spared tissue. Ultimately, management consisted of a robot-assisted laparoscopic partial right adrenalectomy with successful preservation of adrenocortical function.
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Clinical Features and Natural History of von Hippel-Lindau Disease
Eamonn R. Maher, John R.W. Yates, R W J Harries et al. · QJM · 1990 · 949 citations
Von Hippel-Lindau disease: a genetic study.
Eamonn R. Maher, L Iselius, John R.W. Yates et al. · Journal of Medical Genetics · 1991 · 606 citations · Full text