Keller Hilary R, Record Jessica L, Lall Neil U
Department of Surgery, Guthrie Robert Packer Hospital, Sayre, PA.
Department of Radiology, Ochsner Clinic Foundation, New Orleans, LA.
Ochsner J. 2018 Summer;18(2):170-175. doi: 10.31486/toj.17.0019.
Multiple endocrine neoplasia type 1 (MEN1) is a rare, autosomal dominant inherited syndrome caused by mutations in the MEN1 tumor suppressor gene. The diagnosis is defined clinically by the presence of 2 or more primary MEN1 tumors (parathyroid, anterior pituitary, and pancreatic islet). We describe the case of a patient who presented with classic history and imaging findings for MEN1.
A male in his early thirties with a history of hyperparathyroidism and a transsphenoidal prolactinoma resection presented years later with abdominal symptoms concerning for Zollinger-Ellison syndrome: worsening epigastric abdominal pain, nausea, vomiting, and diarrhea. Contrast-enhanced computed tomography (CT) of the abdomen revealed hyperenhancing pancreatic lesions and duodenal inflammation, suggesting pancreatic neuroendocrine tumor (gastrinoma) with secondary duodenitis. Bilateral indeterminate hypoattenuating adrenal nodules were also seen on contrast-enhanced CT, and follow-up magnetic resonance imaging confirmed benign adrenal adenomas. Furthermore, thyroid ultrasound and sestamibi scintigraphy revealed a parathyroid adenoma. With confirmatory imaging findings, history, and presenting symptoms, the patient was clinically diagnosed with MEN1 syndrome and underwent surgical and medical management.
This case exhibits the classic history with corresponding imaging findings of MEN1 syndrome, including pancreatic neuroendocrine tumors, parathyroid adenoma, and adrenal adenomas. High clinical suspicion for MEN1 should lead to endocrinology evaluation with appropriate laboratory workup and targeted imaging evaluation of the typical endocrine organs as described for this patient.
1型多发性内分泌腺瘤病（MEN1）是一种罕见的常染色体显性遗传综合征，由MEN1肿瘤抑制基因突变引起。临床诊断依据为存在2个或更多原发性MEN1肿瘤（甲状旁腺、垂体前叶和胰岛）。我们描述了一名具有MEN1典型病史和影像学表现的患者病例。
一名30岁出头的男性，有甲状旁腺功能亢进病史且曾接受经蝶窦催乳素瘤切除术，数年后出现与卓艾综合征相关的腹部症状：上腹部疼痛加重、恶心、呕吐和腹泻。腹部增强计算机断层扫描（CT）显示胰腺病变强化明显以及十二指肠炎症，提示胰腺神经内分泌肿瘤（胃泌素瘤）伴继发性十二指肠炎。增强CT还发现双侧肾上腺有低密度结节，后续磁共振成像证实为良性肾上腺腺瘤。此外，甲状腺超声和锝[99mTc] sestamibi闪烁扫描显示有甲状旁腺腺瘤。结合确诊的影像学表现、病史和出现的症状，该患者临床诊断为MEN1综合征，并接受了手术和药物治疗。
本病例展现了MEN1综合征的典型病史及相应影像学表现，包括胰腺神经内分泌肿瘤、甲状旁腺腺瘤和肾上腺腺瘤。对MEN1保持高度临床怀疑应促使进行内分泌学评估，并开展适当的实验室检查以及针对典型内分泌器官的靶向影像学评估，如本病例所述。
