Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas.: A rare manifestation of von Hippel-Lindau disease in childhood

Background: A 12-year-old girl presenting with intermittent epigastric pains and diarrhea was referred to our clinic. Diagnostic work-up revealed nonfunctional bilateral adrenal pheochromocytomas as well as a neuroendocrine tumor of the pancreatic head. This is the first report on the combination of a neuroendocrine pancreatic tumor with adrenal pheochromocytoma in a pediatric patient with von Hippel-Lindau (VHL) disease. Methods: von Hippel-Lindau disease was confirmed by molecular genetic analysis of peripheral blood lymphocytes, which revealed the mutation VHL c. 695 G > A. The family history showed also VHL disease in the mother who carried the same mutation. Results and Conclusion: Open laparotomy, organ-sparing enucleation of pheochromocytoma, and pylorus-preserving resection of the pancreatic head tumor were successfully performed. After an uneventful postoperative course, the child fully recovered. She was free of further manifestations of VHL disease 30 months after surgery. (c) 2007 Elsevier Inc. All rights reserved.