A Young Female Patient with Gardner Syndrome: A Case Report

年輕女性病患有Gardner氏症：病例報告

崔祐堃(Yu-Kun Tsui) ； 吳仁宏(Reng-Hong Wu) ； 曾慶誠(Ching-Cherng Tzeng) ； 吳德昌(Te-Chang Wu) ； 陳泰源(Tai-Yuan Chen) ； 吳泰清(Tai-Ching Wu) ； 曾文盛(Wen-Sheng Tzeng)

《中華放射線醫學雜誌》 33卷1期 (2008/03) Pp. 51-56

摘要

Gardner氏症為家族性腺瘤性瘜肉症的一種變化。我們在此報告一個Gardner氏症的病例合併有大腸與胃瘜肉症、大腸癌、腹部硬纖維瘤與頭部骨瘤。一位37歲女性遭受間歇性腹部上腹悶痛與絞痛的情形約一個星期；同時也發現有食慾不振、嘔吐與無排便的情形。腹部電腦斷層掃瞄顯示一浸潤性腫瘤位在大腸肝彎處以及兩個腹壁腫瘤。大腸鏡顯示大腸瘜肉症，切片顯示為管狀腺瘤。病患接受手術後診斷為大腸肝彎大腸癌，腺瘤性瘜肉症與腹壁硬纖維瘤。三個月後，病患發生上消化道出血與意識改變的情形，上消化道內視鏡發現有胃部瘜肉症以及頭部電腦斷層檢查發現有頭部骨瘤。依據這些臨床表現診斷為Gardner氏症。如果臨床上發現有其中一項Gardner氏症的表徵，我們要留意此診斷的可能性與進行進一步的評估。

並列摘要

Gardner syndrome is a variant of the familial adenomatous polyposis syndrome. We describe a case of Gardner syndrome with clinical manifestations including colonic and gastric polyposis, colon adenocarcinoma, abdominal desmoid tumor, and skull osteomas. A 37-year-old woman suffered from intermittent epigastric dull and cramping pain for one week. Moreover, poor appetite and vomiting after medication and no stool passage were also noted. An abdominal computed tomography (CT) revealed infiltrative tumor at hepatic flexure of colon and two tumor masses at abdominal wall. Colonoscopy showed polyposis and the biopsy showed tubular adenoma. The patient underwent surgical intervention. Colon adenocarcinoma, adenomatous polyposis of colon, and abdominal wall desmoid tumors were diagnosed. Three months later, the patient suffered from upper gastrointestinal (UGI) bleeding and conscious change. UGI endoscope study revealed gastric polyposis and a brain CT survey showed multiple osteomas. The diagnosis of Gardner syndrome was made according to these clinical manifestations. Physicians should be aware of this diagnosis and further evaluation is needed if any of the clinical manifestations of Gardner syndrome is found.
Gardner syndrome is a variant of the familial adenomatous polyposis syndrome [1]. This disease is characterized by the presence of familial adenomatous polyposis, benign osteomas, and skin and soft tissue tumors [1, 2]. We describe a case of Gardner syndrome with clinical manifestations including colonic and gastric polyposis, colon adenocarcinoma, abdominal desmoid tumor, and skull osteomas.