| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5569923 | Journal of Pediatric Health Care | 2017 | 5 Pages |
Abstract
Congenital glucose-galactose malabsorption (CGGM) is a rare cause of intractable infantile diarrhea, with only a few hundred cases recognized worldwide. This life-threatening disorder must be considered in the differential diagnosis of an infant who presents with diarrhea and dehydration that fails to respond to standard therapy. The clinical and diagnostic course of an infant with recurrent episodes of watery diarrhea and hypernatremic dehydration found to be homozygous for a rare variant in the SLC5A1 gene, c.187C>T (p.R63X) is described.
Related Topics
Health Sciences
Medicine and Dentistry
Perinatology, Pediatrics and Child Health
Authors
Sharon DNP, NNP-BC, APNG, Soula MD, Baozhong PhD, Susan Sklower MD, FACMG,