Carbohydrate malabsorption mimicking immune dysregulation: A histological challenge
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.
Authors
- Lysandra Voltaggio (ORCID: https://orcid.org/0000-0003-2611-7576)
- Seyma Eroglu (ORCID: https://orcid.org/0000-0002-9634-7708)
- Anthony L. Guerrerio (ORCID: https://orcid.org/0000-0003-2458-7160)
- Yujie Zhang (ORCID: https://orcid.org/0000-0003-1994-6552)
- Sara Nandolia
Institutions
- National Institutes of Health (US)
- Johns Hopkins University (US)
- University Hospitals of Cleveland (US)
- Johns Hopkins Medicine (US)
- National Human Genome Research Institute (US)
- Case Western Reserve University (US)
Publication Details
- Journal
- JPGN Reports
- Published
- 2025-03-05
- DOI
- https://doi.org/10.1002/jpr3.70006
- Primary Topic
- Digestive system and related health
- Type
- article
- Field-Weighted Citation Impact
- 0.00