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一名儿童的非家族性幼年性结肠息肉病:病例报告

Nonfamilial juvenile polyposis coli in a child: report of a case.

作者信息

Okada Tadao, Sasaki Fumiaki, Ueki Shinya, Nakagawa Shinichi, Kato Mototsugu, Itoh Tomoo, Ota Satoshi, Todo Satoru

机构信息

Department of Pediatric Surgery, First Surgery, Endoscopy and Pathology, Hokkaido University, School of Medicine, N 15, W 7, Kita-ku, Sapporo 060-8638, Japan.

出版信息

Surg Today. 2004;34(7):609-12. doi: 10.1007/s00595-004-2778-5.

Abstract

Juvenile polyposis coli (JPC) is an uncommon condition, manifesting as hamartomatous gastrointestinal polyposis with potential malignancy. This report describes a 15-month-old girl who was diagnosed to have nonfamilial JPC accompanied by macrocephaly, clubbed fingers, and mental retardation. Radiography of the colon by a barium enema and total colonoscopy demonstrated numerous colonic polyps. A barium meal study did not show any abnormality in the stomach, duodenum, or small intestine. She died at 6 years of age from hemorrhagic shock due to massive lower gastrointestinal bleeding associated with a rectal prolapse. The related literature is reviewed, and the treatments and complications of JPC in children are also discussed. We emphasize that family members of patients diagnosed with juvenile polyposis should be questioned and undergo appropriate examinations of the entire intestine from the stomach to the rectum.

摘要

青少年息肉病(JPC)是一种罕见疾病,表现为具有潜在恶性的错构瘤性胃肠道息肉病。本报告描述了一名15个月大的女孩,她被诊断患有非家族性JPC,并伴有巨头畸形、杵状指和智力发育迟缓。通过钡剂灌肠和全结肠镜检查对结肠进行的X线检查显示有大量结肠息肉。钡餐检查未显示胃、十二指肠或小肠有任何异常。她在6岁时因与直肠脱垂相关的大量下消化道出血导致失血性休克而死亡。本文回顾了相关文献,并讨论了儿童JPC的治疗方法和并发症。我们强调,对于被诊断为青少年息肉病的患者家属,应进行询问,并对从胃到直肠的整个肠道进行适当检查。

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