病例报告:克朗凯特-加拿大综合征:一例儿科病例及文献综述。

IF 2.1 3区 医学 Q2 PEDIATRICS Frontiers in Pediatrics Pub Date : 2024-09-24 eCollection Date: 2024-01-01 DOI:10.3389/fped.2024.1451472
Weina Shi, Haiyan Fu, Shiguang Zhao, Shuhuan Cheng, Shaogang Hou, Ruiqin Zhao
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引用次数: 0

摘要

背景:克朗凯特-加拿大综合征(CCS)在儿童中极为罕见,临床表现复杂,经常导致误诊:我们报告了一名患有 CSS 的 13 岁男孩,他表现为持续腹泻、呕吐和腹痛,同时伴有体重减轻、脱发和皮肤色素沉着等症状。患者有脱发和皮肤色素沉着等外胚层表现。实验室检查显示患者低白蛋白血症,炎症指标正常,抗dsDNA抗体、抗中心粒抗体和抗核抗体阳性。胃肠道内窥镜检查发现胃、十二指肠和结肠有息肉样病变,病理显示腺体扩张、隐窝炎和隐窝脓肿。使用泼尼松治疗后,症状明显改善,包括大便稠度恢复正常、毛发再生、皮肤色素沉着消失:本研究强调了综合评估、内窥镜检查、组织学活检以及类固醇治疗在诊断和治疗儿童宿便性腹泻中的有效性。对于出现腹泻、腹痛、体重减轻、息肉病和外胚层表现的儿童,应考虑为 CCS。
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Case Report: Cronkhite-Canada syndrome: presentation of a pediatric case and review of the literature.

Background: Cronkhite-Canada syndrome (CCS) is extremely rare in children, presenting with complex clinical manifestations often leading to misdiagnosis.

Case presentation: We reported a description of a 13-year-old boy with CSS presenting with persistent diarrhea, vomiting, abdominal pain, along with symptoms of weight loss, alopecia, and skin hyperpigmentation. The patient had ectodermal manifestations such as alopecia and skin hyperpigmentation. Laboratory tests revealed hypoalbuminemia, normal inflammatory indicators, positive anti-dsDNA antibodies, anti-centromere antibodies, and anti-nuclear antibodies. Gastrointestinal endoscopy identified polypoid changes in the stomach, duodenum, and colon, with pathology indicating glandular dilation, cryptitis, and crypt abscesses. Treatment with prednisone led to significant improvement in symptoms, including normalization of stool consistency, hair regrowth, and disappearance of skin hyperpigmentation.

Conclusion: This study emphasizes the importance of comprehensive assessment, endoscopic examination, histological biopsy, and the effectiveness of steroid therapy in the diagnosis and management of CCS in children. In children presenting with diarrhea, abdominal pain, weight loss, polyposis, and ectodermal manifestations, CCS should be considered.

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来源期刊
Frontiers in Pediatrics
Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health
CiteScore
3.60
自引率
7.70%
发文量
2132
审稿时长
14 weeks
期刊介绍: Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.
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