Kamath Bharat, Doddamallappa Samprathi, Roy Arpit, Dhobale Sudhir
Department of Surgery, HBT Medical College and RN Cooper Hospital, Mumbai, Maharashtra, India.
J Indian Assoc Pediatr Surg. 2023 May-Jun;28(3):250-252. doi: 10.4103/jiaps.jiaps_160_22. Epub 2023 May 2.
Peutz-Jeghers syndrome (PJS) is characterized by mucocutaneous pigmentation with multiple hamartomatous polyps of the gastrointestinal tract and/or a familial history with autosomal dominant inheritance pattern having incomplete penetrance, with some cases arising from spontaneous mutations. We present this case of a 12-year-old female who presented with jejunojejunal intussusception and on exploration revealed a polypoidal mass around 50 cm from duodenojejunal flexure acting as a lead point. A segmental jejunal resection with anastomosis was performed and histopathology confirmed a solitary Peutz-Jeghers (PJ) hamartomatous polyp. She neither had mucocutaneous pigmentation nor family history of PJS or any other polyps anywhere in the gut on further evaluation by endoscopies. A solitary PJ polyp in the jejunum is a rare entity, and to the best of our knowledge, only around 13 cases have been reported in world literature so far. Regular follow-up is essential in young children, so that future manifestations of the PJS are not missed.
黑斑息肉综合征(PJS)的特征为皮肤黏膜色素沉着、胃肠道多发错构瘤性息肉和/或具有常染色体显性遗传模式且外显率不完全的家族史,部分病例由自发突变引起。我们报告了一名12岁女性患者,该患者因空肠空肠套叠就诊,术中探查发现距十二指肠空肠曲约50 cm处有一个息肉样肿物作为套叠的引导点。进行了节段性空肠切除并吻合,组织病理学证实为孤立性黑斑息肉(PJ)错构瘤性息肉。进一步经内镜评估发现,她既没有皮肤黏膜色素沉着,也没有PJS家族史或肠道其他部位的任何息肉。空肠孤立性PJ息肉是一种罕见的疾病,据我们所知,迄今为止世界文献中仅报道了约13例。对幼儿进行定期随访至关重要,以免漏诊PJS的未来表现。