Martino Brendan R, Manibusan Pedro
Internal Medicine, Tripler Army Medical Center, Honolulu, USA.
Gastroenterology, Tripler Army Medical Center, Honolulu, USA.
Cureus. 2022 Jun 30;14(6):e26468. doi: 10.7759/cureus.26468. eCollection 2022 Jun.
Multiple Endocrine Neoplasia 1 (MEN1) syndrome is a genetic condition arising from a mutation of the MEN1 gene resulting in neuroendocrine tumor formation. Patients with MEN1 are at a higher risk of developing Zollinger-Ellison syndrome (ZES) due to the growth of neuroendocrine tumors called gastrinomas that release gastrin leading to hypersecretion of acid in the stomach resulting in severe ulcerative disease of the upper GI tract. Our case is a 42-year-old female with newly diagnosed MEN1 syndrome, presenting with acute abdominal pain and dyspepsia refractory to medical management including proton pump inhibitors (PPI) and H2 antagonists. ZES was biochemically confirmed with a secretin stimulation test and dotatate positron emission tomography/computed tomography (PET/CT) revealed multiple areas of hyper-metabolic activity within the gastrinoma triangle. However, no discrete masses could be appreciated on endoscopic ultrasound (EUS) or CT imaging that could provide a target for surgical intervention. This case elucidates not only the difficulty of gastrinoma localization in medically refractory ZES but also reinforces the need to screen patients with MEN1 presenting with acute abdominal pain and dyspepsia for ZES.
多发性内分泌腺瘤病1型（MEN1）综合征是一种由MEN1基因突变引起的遗传性疾病，可导致神经内分泌肿瘤形成。由于名为胃泌素瘤的神经内分泌肿瘤生长，释放胃泌素，导致胃酸分泌过多，从而引起上消化道严重溃疡性疾病，MEN1患者患卓艾综合征（ZES）的风险更高。我们的病例是一名42岁新诊断为MEN1综合征的女性，表现为急性腹痛和消化不良，对包括质子泵抑制剂（PPI）和H2拮抗剂在内的药物治疗无效。通过促胰液素刺激试验在生化上确诊为ZES，并且钇[68Ga] DOTATATE正电子发射断层扫描/计算机断层扫描（PET/CT）显示在胃泌素瘤三角区内有多个高代谢活性区域。然而，在内镜超声（EUS）或CT成像上未发现可作为手术干预靶点的离散肿块。该病例不仅阐明了在药物难治性ZES中胃泌素瘤定位的困难，也强化了对出现急性腹痛和消化不良的MEN1患者进行ZES筛查的必要性。
