PDF(Pubmed)
Abstract：
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing gastrointestinal polyps and skin pigmentation. Our case report highlights a unique instance of jejuno-jejunal intussusception associated with PJS in a 28-year-old female patient who presented to the emergency department with colicky abdominal pain, tachycardia, and gastrointestinal symptoms. Physical examination revealed mucocutaneous hyperpigmentation. Imaging studies showed a U-shaped distension in the jejunum with thickening and pneumatosis. Laparotomy revealed a jejuno-jejunal volvulus with intussusception. Surgical resection successfully addressed gangrenous jejunal tissue and ileal polyps. Histopathology confirmed PJS polyps. Postoperatively, the patient recovered well and was discharged. Family history revealed similar skin lesions in her uncle. Our case highlights the need for prompt surgical intervention to address complications associated with PJS and elucidates a unique presentation of PJS involving jejuno-jejunal intussusception and volvulus leading to complete small bowel obstruction. We aim to deepen understanding and prompt discussions on optimal therapeutic strategies.
摘要：
Peutz-Jeghers综合征（PJS）是一种罕见的遗传性疾病，可引起胃肠道息肉和皮肤色素沉着。我们的病例报告强调了一个与PJS相关的空肠-空肠肠套叠的独特实例，该患者是一名28岁的女性患者，该患者因腹痛出现在急诊科，心动过速,和胃肠道症状。体格检查显示皮肤粘膜色素沉着过度。影像学研究显示空肠呈U形扩张，伴有增厚和肺炎。剖腹手术显示空肠-空肠扭转伴肠套叠。手术切除成功治疗坏疽性空肠组织和回肠息肉。组织病理学证实PJS息肉。术后,病人恢复良好并出院。家族史显示她叔叔的皮肤病变相似。我们的病例强调了需要及时进行手术干预以解决与PJS相关的并发症，并阐明了PJS的独特表现，涉及空肠-空肠肠套叠和扭转，导致完全小肠梗阻。我们旨在加深对最佳治疗策略的理解并促进讨论。
