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婴儿先天性巨结肠的非典型表现:复发性小肠结肠炎早期诊断与管理中的挑战

Atypical Presentation of Hirschsprung's Disease in an Infant: Challenges in Early Diagnosis and Management of Recurrent Enterocolitis.

作者信息

Rogu Peter J, Colalillo Emily, Rogu Nicholas, Rogu George

机构信息

Medicine, New York Institute of Technology (NYIT) College of Osteopathic Medicine, Old Westbury, USA.

Pediatric Medicine, New York Institute of Technology (NYIT) College of Osteopathic Medicine, Old Westbury, USA.

出版信息

Cureus. 2024 Nov 17;16(11):e73862. doi: 10.7759/cureus.73862. eCollection 2024 Nov.

DOI:10.7759/cureus.73862
PMID:39691132
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11651778/
Abstract

Hirschsprung's disease is a congenital condition characterized by the absence of ganglion cells in the intestines, leading to bowel obstruction. The lack of ganglion cells disrupts the normal motility of the intestines, causing a functional obstruction. This can lead to enterocolitis, an inflammation of the intestines, which is a serious complication in infants with Hirschsprung's disease. This case report follows a male infant with multiple admissions for recurrent enterocolitis secondary to undiagnosed Hirschsprung's disease with unresolving diarrhea. This study underscores the significance of early diagnosis and management, even in cases of atypical presentation, emphasizing the role of antibiotics, bowel decompression, and surgical intervention. The findings highlight the complexity of managing Hirschsprung's disease and offer insights into tailored approaches for optimizing patient outcomes.

摘要

先天性巨结肠症是一种先天性疾病,其特征是肠道中缺乏神经节细胞,导致肠梗阻。神经节细胞的缺乏会破坏肠道的正常蠕动,造成功能性梗阻。这可能导致小肠结肠炎,即肠道的炎症,这是先天性巨结肠症婴儿的一种严重并发症。本病例报告追踪了一名男婴,因未确诊的先天性巨结肠症继发反复小肠结肠炎且腹泻未愈而多次入院。本研究强调了早期诊断和治疗的重要性,即使在非典型表现的病例中也是如此,强调了抗生素、肠道减压和手术干预的作用。这些发现凸显了先天性巨结肠症治疗的复杂性,并为优化患者预后的个性化方法提供了见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d09d/11651778/5048fe61c57a/cureus-0016-00000073862-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d09d/11651778/1e469de33f71/cureus-0016-00000073862-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d09d/11651778/3601ff3c72f4/cureus-0016-00000073862-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d09d/11651778/5048fe61c57a/cureus-0016-00000073862-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d09d/11651778/1e469de33f71/cureus-0016-00000073862-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d09d/11651778/3601ff3c72f4/cureus-0016-00000073862-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d09d/11651778/5048fe61c57a/cureus-0016-00000073862-i03.jpg

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1
Atypical Presentation of Hirschsprung's Disease in an Infant: Challenges in Early Diagnosis and Management of Recurrent Enterocolitis.婴儿先天性巨结肠的非典型表现:复发性小肠结肠炎早期诊断与管理中的挑战
Cureus. 2024 Nov 17;16(11):e73862. doi: 10.7759/cureus.73862. eCollection 2024 Nov.
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Hirschsprung's disease associated with alopecia universalis congenita: a case report.先天性全秃伴先天性巨结肠:一例报告
J Med Case Rep. 2016 Sep 15;10(1):250. doi: 10.1186/s13256-016-1035-z.

本文引用的文献

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Rectal Biopsy for Hirschsprung's Disease: A Multicentre Study Involving Biopsy Technique, Pathology and Complications.先天性巨结肠症的直肠活检:一项涉及活检技术、病理学及并发症的多中心研究
Children (Basel). 2023 Aug 31;10(9):1488. doi: 10.3390/children10091488.
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