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罕见病例:一名患有 Peutz-Jeghers 综合征的青少年息肉患者,并发小肠肠套叠。

A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine.

机构信息

Medical University of Lublin, Lublin, Poland.

出版信息

Folia Med (Plovdiv). 2022 Aug 31;64(4):693-696. doi: 10.3897/folmed.64.e67044.

Abstract

We report a rare case of Peutz-Jeghers syndrome (PJS) in a 35-year-old female. The patient was diagnosed with PJS when she was 11 years old. She has remained under observation since then. We strongly believe that PJS is a very rare diagnosis. However, it can have serious complications such as the intussusception we observed in our patient. Her condition (recurrent abdominal pain and vomiting) in childhood required further diagnostic procedures. Although the diagnosis of PJS was made, among many resected polyps, one of them appeared to be a juvenile polyp. The diagnosis was confirmed in the histopathology report, which was incredibly unique. Genetic testing revealed LKB1/STK11 gene mutation. Clinicians should be aware of the malignant potential in the course of PJS. Hence, these patients require tailor-made management, long-term follow-up, and our particular attention.

摘要

我们报告了一例罕见的皮杰氏综合征(PJS)病例,患者为 35 岁女性。该患者 11 岁时被诊断为 PJS,此后一直接受观察。我们坚信 PJS 是一种非常罕见的诊断。然而,它可能会导致严重的并发症,如我们观察到的这位患者的肠套叠。她小时候(反复腹痛和呕吐)的病情需要进一步的诊断程序。尽管诊断为 PJS,但在许多切除的息肉中,有一个似乎是幼年性息肉。组织病理学报告证实了这一诊断,这非常独特。基因检测显示 LKB1/STK11 基因突变。临床医生应该意识到 PJS 病程中的恶性潜能。因此,这些患者需要定制化的管理、长期随访和我们的特别关注。

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