de Oliveira Michell Frank Alves, Rodrigues Maria Aparecida Marchesan
Universidade Estadual Paulista (UNESP), Faculdade de Medicina de Botucatu, Departamento de Patologia, Botucatu, SP, Brasil.
Autops Case Rep. 2021 Apr 20;11:e2021279. doi: 10.4322/acr.2021.279.
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant polyposis entity that often remains undiagnosed. The major problems associated with PJS are acute complications due to (i) polyp-related intestinal obstruction, (ii) intussusception, and (iii) the risk of cancer in the long-term. We report the case of a 32-year-old female who presented at the emergency room with signs of acute abdomen and died during the clinical workup. She had a one-month history of nausea, vomiting, and diarrhea and was pregnant at about 30 weeks. There was no contributing past history except for undergoing small bowel resection in infancy. The postmortem examination revealed multiple arborizing polyps throughout the gastrointestinal tract, chiefly in the small bowel. Intestinal obstruction was found at the proximal jejunum with necrosis, perforation, and peritonitis. Histologically, the polyps were composed of tree branch-like bundles of smooth muscle covered by normal-appearing glandular epithelium, confirming the diagnosis of hamartomatous polyps. No malignant or premalignant lesions were detected in the gastrointestinal tract or other organs. This case was an opportunity to analyze the natural history and the pathological features of the Peutz-Jeghers syndrome in an adult and to investigate the presence of neoplastic lesions associated with this condition.
黑斑息肉综合征（PJS）是一种罕见的常染色体显性遗传息肉病，常未被诊断出来。与PJS相关的主要问题包括：（i）息肉相关的肠梗阻导致的急性并发症；（ii）肠套叠；（iii）长期的癌症风险。我们报告一例32岁女性病例，该患者因急腹症症状就诊于急诊室，在临床检查过程中死亡。她有1个月的恶心、呕吐和腹泻病史，怀孕约30周。除婴儿期接受过小肠切除手术外，无其他相关既往史。尸检发现整个胃肠道有多个分支状息肉，主要位于小肠。在空肠近端发现肠梗阻，并伴有坏死、穿孔和腹膜炎。组织学检查显示，息肉由外观正常的腺上皮覆盖的树枝状平滑肌束组成，确诊为错构瘤性息肉。在胃肠道或其他器官未检测到恶性或癌前病变。该病例为分析成人黑斑息肉综合征的自然病史和病理特征以及研究与此病相关的肿瘤性病变的存在提供了机会。
