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由于孤独的Peutz-Jeghers Jejunal Polyp:一个罕见的实体而引起的小肠内
Bharat Kamath1, Samprathi Doddamallappa1, Arpit Roy1
1Department of Surgery, HBT Medical College and RN Cooper Hospital, Mumbai, Maharashtra, India.
Journal of Indian Association of Pediatric Surgeons
|June 30, 2023
概括
一个罕见的Peutz-Jeghers (PJ) 综合征病例呈现为一个12岁的女性的阴内接收. 组织病理学证实了单独的PJ牙多,强调了儿童病例需要保持警的必要性.
科学领域:
- 胃肠病学 胃肠病学
- 儿科手术 儿科手术
- 遗传学 是一个遗传学.
背景情况:
- 皮茨-杰格斯综合征 (PJS) 是一种遗传性疾病,其特征是粘膜皮肤色素和胃肠道哈马托马托斯多.
- PJS通常遵循一种自体主导遗传模式,具有不完全的透性,尽管会发生自发突变.
- 输入受是PJS的已知并发症,原因是作为点的息肉.
研究的目的:
- 报告一例罕见的小儿病人的单独的Peutz-Jeghers多体在阴呈现为内.
- 强调在没有典型的临床或家族特征的情况下诊断PJS的挑战和管理.
- 强调定期随访对于早期发现儿童PJS表现的重要性.
主要方法:
- 一个12岁的女性患有内内缺陷的案例介绍.
- 手术探索揭示了一个孤独的多重形质群体在阴.
- 细分关切除与解肠切除以及随后的组织病理学确认Peutz-Jeghers hamartomatous多胞体.
主要成果:
- 一个孤独的Peutz-Jeghers哈马托马图斯多体被确定为输入接的首要点.
- 患者缺乏特征性粘膜皮肤色素和家族史上的PJS.
- 这代表了世界文献中少数报告的单独状PJ息肉病例之一.
结论:
- 孤独的Peutz-Jeghers息肉,特别是在阴,是PJS极为罕见的表现.
- 由于没有经典的PJS症状,因此需要对潜在的疾病进行彻底的调查,例如单独的息肉.
- 密切的儿科监测对于及时诊断和管理潜在的未来PJS并发症至关重要.
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