Seyma Eroglu, Sara Nandolia, Yujie Zhang, Lysandra Voltaggio, Anthony L Guerrerio
{"title":"Carbohydrate malabsorption mimicking immune dysregulation: A histological challenge.","authors":"Seyma Eroglu, Sara Nandolia, Yujie Zhang, Lysandra Voltaggio, Anthony L Guerrerio","doi":"10.1002/jpr3.70006","DOIUrl":null,"url":null,"abstract":"<p><p>We report a case of neonatal-onset intractable diarrhea, where the patient's histologic findings suggested immune dysregulation. However, genetic testing revealed compound heterozygous variants in the <i>SLC5A1</i> gene. This case report adds to the existing literature by demonstrating that severe carbohydrate malabsorption can cause inflammatory histological features possibly secondary to small intestinal bacterial overgrowth.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":"6 2","pages":"174-176"},"PeriodicalIF":0.0000,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078038/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"JPGN reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/jpr3.70006","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/5/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
We report a case of neonatal-onset intractable diarrhea, where the patient's histologic findings suggested immune dysregulation. However, genetic testing revealed compound heterozygous variants in the SLC5A1 gene. This case report adds to the existing literature by demonstrating that severe carbohydrate malabsorption can cause inflammatory histological features possibly secondary to small intestinal bacterial overgrowth.
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