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Cholelithiasis in infants with Down syndrome: report of two cases
F M Aynaci1, E Erduran, H Mocan
1Karadeniz Technical University Faculty of Medicine, Department of Pediatrics, Trabzon, Turkey.
Insights
This study reports two infants with Down syndrome (DS) and cholelithiasis (gallstones). Polycythemia in newborns may contribute to gallstone formation in infants with DS.
Area of Science:
- Pediatrics
- Medical Genetics
- Gastroenterology
Background:
- Down syndrome (DS) is a genetic disorder associated with various abnormalities.
- Cholelithiasis (gallstones) in infancy is rare, with limited reports in DS patients.
- Previous literature documents only one case of infantile cholelithiasis in Down syndrome.
Abstract:
Down syndrome is a chromosomal disorder most often observed in the newborn period. Various facial, limb and internal abnormalities are found in this disorder but cholelithiasis in infancy has been described in only one report. We report two infants with Down syndrome associated with cholelithiasis. Except for polycythemia and indirect hyperbilirubinemia, no hemolytic process or biochemical abnormalities were evident in both patients. We believe that the cause of gallstones in our cases may have been polycythemia in the newborn period. To our knowledge this is only the second report of gallstones in infancy in Down syndrome.