胰腺神经内分泌肿瘤和双侧肾上腺嗜铬细胞瘤。儿童期冯·希佩尔-林道病的罕见表现。
Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhood.
作者信息
Langrehr Jan M, Bahra Marcus, Kristiansen Glen, Neumann Hartmut P H, Neumann Luitgard M, Plöckinger Ursula, Lopez-Hänninen Enrique
机构信息
Department for General, Visceral and Transplantation Surgery, Charité, Campus Virchow Clinic, 13353 Berlin, Germany.
出版信息
J Pediatr Surg. 2007 Jul;42(7):1291-4. doi: 10.1016/j.jpedsurg.2007.02.029.
BACKGROUND
A 12-year-old girl presenting with intermittent epigastric pains and diarrhea was referred to our clinic. Diagnostic workup 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.
背景
一名12岁女童因间歇性上腹部疼痛和腹泻转诊至我院。诊断检查发现双侧无功能肾上腺嗜铬细胞瘤以及胰头神经内分泌肿瘤。这是首例关于患有冯·希佩尔-林道（VHL）病的儿科患者出现神经内分泌胰腺肿瘤合并肾上腺嗜铬细胞瘤的报告。
方法
通过对外周血淋巴细胞进行分子遗传学分析确诊为冯·希佩尔-林道病，结果显示VHL基因c. 695 G > A突变。家族史显示，携带相同突变的母亲也患有VHL病。
结果与结论
成功实施了开放剖腹手术、保留器官的嗜铬细胞瘤摘除术以及保留幽门的胰头肿瘤切除术。术后过程顺利，患儿完全康复。术后30个月，她未出现VHL病的进一步表现。
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