Peutz-Jeghers综合征
肠套叠(内科疾病)
医学
STK11段
呕吐
腹痛
组织病理学
外科
皮肤病科
内科学
癌症
病理
结直肠癌
克拉斯
作者
Anna Rycyk,Beata Kasztelan‐Szczerbińska,Halina Cichoż‐Lach
出处
期刊:Folia Medica
[De Gruyter Open]
日期:2022-08-31
卷期号:64 (4): 693-696
被引量:1
标识
DOI:10.3897/folmed.64.e67044
摘要
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.
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