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黑斑息肉综合征——需警惕:一例病例报告

Peutz-Jeghers syndrome - Be in need of vigilance: A case report.

作者信息

Tomey Vandana S, Tomey Sudhir, Dhone Kewal, Tapase Tanmay

机构信息

Department of Surgery, Datta Meghe Medical College, DMIHER University, Wardha, Maharashtra, India.

出版信息

J Family Med Prim Care. 2024 Dec;13(12):5927-5930. doi: 10.4103/jfmpc.jfmpc_958_24. Epub 2024 Dec 9.

Abstract

Peutz-Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene. We describe the case of a 14-year-old male who presented to us with recurrent abdominal pain, vomiting and weight loss associated with growth failure. Classic melanin spots were present on lips and buccal mucosa. Diagnosis of PJS was established via clinical history, examination, CT scan, and endoscopy revealing the need for laparotomy for bowel obstruction secondary to chronic intermittent intussusception, enterotomy for small polyps. Polyp histopathology was consistent with hamartomatous polyps of PJS.

摘要

佩-吉综合征(PJS)是一种遗传性疾病,会使人们患消化道错构瘤性息肉以及乳腺癌、结肠癌、直肠癌、胰腺癌、胃癌、睾丸癌、卵巢癌、肺癌和宫颈癌的风险增加。典型表现时,大多数PJS病例可在儿童期确诊。PJS是由STK II基因(也称为LKB1基因)的突变遗传而来。我们描述了一名14岁男性的病例,他因反复腹痛、呕吐和体重减轻伴生长发育迟缓前来就诊。嘴唇和颊黏膜有典型的黑色素斑。通过临床病史、检查、CT扫描和内镜检查确诊为PJS,内镜检查显示因慢性间歇性肠套叠继发肠梗阻需要剖腹手术,因小息肉需要进行肠切开术。息肉组织病理学与PJS的错构瘤性息肉一致。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/086f/11709068/07d30682df39/JFMPC-13-5927-g001.jpg

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