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幼年性息肉病综合征:一例幼龄婴儿贫血和胃肠道出血的罕见病例报告。

Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant.

作者信息

Hsiao Yi-Han, Wei Chin-Hung, Chang Szu-Wen, Chang Lung, Fu Yu-Wei, Lee Hung-Chang, Liu Hsuan-Liang, Yeung Chun-Yan

机构信息

Division of Gastroenterology and Nutrition, Department of Pediatrics, Mackay Memorial Hospital Department of Medicine, Mackay Medical College Division of Pediatric Surgery, Department of Surgery, Mackay Memorial Hospital Institute of Biotechnology and Department of Chemical Engineering, National Taipei University of Technology, Taipei, Taiwan.

出版信息

Medicine (Baltimore). 2016 Sep;95(37):e4550. doi: 10.1097/MD.0000000000004550.

Abstract

BACKGROUND

Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature.

METHODS

We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established.

RESULTS

Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months.

CONCLUSION

Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages.

摘要

背景

幼年性息肉病综合征是儿童中的一种罕见疾病,其特征为消化道出现多个错构瘤性息肉。多种表现包括出血、肠套叠或息肉脱垂。在本研究中,我们报告了一名8个月大的幼年性息肉病综合征男婴,最初表现为慢性贫血。据我们所知,这是文献中报道的最年幼病例。

方法

我们报告了一例罕见的8个月大男婴,最初表现为慢性贫血和胃肠道出血。全消化道内镜检查和腹部计算机断层扫描显示整个消化道有多发性息肉病,导致肠套叠。锝-99m标记红细胞(RBC)出血扫描显示空肠有胃肠道出血的可能性。活检样本的组织病理学检查排除了黑斑息肉综合征,而确立了幼年性息肉病综合征的诊断。

结果

肠镜下息肉切除术是主要治疗方法。然而,息肉在6个月内复发并占据了大部分胃肠道。给予了支持性治疗。该患者在18个月大时因严重脓毒症死亡。

结论

幼年性息肉病综合征是一种遗传性疾病,因此无法预防。鉴于其预后不良和高死亡率,我们应尽早提高家长的认识并进行教育,这一点很重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8e3/5402548/30f1ff4db0db/medi-95-e4550-g001.jpg

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