先天性巨結腸症術後中年期延遲診斷克隆氏症之病例報告

Delayed Diagnosis of Crohn’s Disease at Middle-Age in a Patient after Surgery for Congenital Megacolon

本案例報告一名41歲男性，既往患有先天性巨結腸，曾接受全結腸切除及迴腸直腸吻合術（martin procedure）。病人自幼年起即有慢性腹瀉與貧血，至中年才診斷為克隆氏症（Crohn’s disease，CD），顯示此為一例診斷延遲的先天性巨結腸症合併CD病人。後續因疾病控制不佳，並出現脂肪葉炎（lobular panniculitis）這一罕見腸外皮膚表現，進一步增加診斷困難。本病人強調，對於有先天性腸道疾病手術史的病人，若術後出現非特異性腹部症狀，應提高對CD或發炎性腸道疾病的鑑別警覺性。即使在接受治療的病人，當臨床症狀與實驗室或影像結果不一致時，也應考慮疾病復發或控制不良的可能。

This case report presents a 41-year-old male with a history of congenital megacolon who underwent total colectomy and ileorectal anastomosis (Martin procedure) in early life. He had experienced chronic diarrhea and anemia since childhood but was not diagnosed with Crohn’s disease (CD) until adulthood, suggesting a delayed diagnosis of early-onset CD. Later, the disease became poorly controlled and was complicated by lobular panniculitis, a rare extraintestinal cutaneous manifestation of CD, further complicating the diagnostic process. This case highlights the importance of maintaining a high index of suspicion for CD in patients with a history of congenital intestinal disorders who present with nonspecific abdominal symptoms after surgery. Even in patients receiving treatment, clinicians should remain alert to the possibility of disease relapse or poor control when clinical symptoms do not correlate with laboratory or imaging findings.