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Isolated magnesium malabsorption in a 10-year-old boy
R Romero1, L R Meacham, K T Winn
1Department of Pediatrics, Division of Pediatric Gastroenterology, Emory University School of Medicine, Atlanta, Georgia USA.
Insights
Isolated magnesium malabsorption, a rare condition, usually appears in infants. This study highlights an unusual case in an older child presenting without typical diarrhea, expanding the known clinical spectrum of congenital hypomagnesemia.
Area of Science:
- Pediatric Gastroenterology
- Human Genetics
- Mineral Metabolism
Background:
- Isolated magnesium malabsorption, or congenital hypomagnesemia, is a rare genetic disorder.
- Fewer than 30 cases have been documented globally.
- The condition typically manifests in infants under six months with severe diarrhea and convulsions.
Abstract:
Isolated magnesium malabsorption (congenital hypomagnesemia) has been reported in approximately 30 patients worldwide. Patients typically present by 6 months of age with convulsions and diarrhea. We report an unusual case of isolated magnesium malabsorption in an older boy with no diarrhea.
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