2018
DOI: 10.3233/npm-181
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Neonatal cholelithiasis in Down syndrome: Is hypothyroidism involved? A case-report

Abstract: We report a 3-month-old male with Down syndrome (DS), prolonged jaundice and poor weight gain, that showed biliary lithiasis and undiagnosed congenital hypothyroidism (CH).CH should be considered in DS, especially in presence of gastrointestinal symptoms or malformations. Clinicians should be aware of the increased risk of gallstones in hypothyroid children with DS, even in neonatal age.

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Cited by 3 publications
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“…The incidence of gallstone disease in children is influenced by both genetic and environmental factors, such as exposure to certain drugs, e.g., ceftriaxone or octreotide. In addition, the presence of predisposing diseases can contribute to the formation of gallstones (such as primary sclerosing cholangitis [ 66 ], Wilson disease [ 67 ], renal stones [ 68 ], congenital nephrotic syndrome [ 69 ], hypothyroidism [ 70 ], Down syndrome [ 71 , 72 ], cystic fibrosis [ 73 ], Gaucher disease [ 74 , 75 ]). In recent years, there have been many studies on gallstone disease in children.…”
Section: Discussionmentioning
confidence: 99%
“…The incidence of gallstone disease in children is influenced by both genetic and environmental factors, such as exposure to certain drugs, e.g., ceftriaxone or octreotide. In addition, the presence of predisposing diseases can contribute to the formation of gallstones (such as primary sclerosing cholangitis [ 66 ], Wilson disease [ 67 ], renal stones [ 68 ], congenital nephrotic syndrome [ 69 ], hypothyroidism [ 70 ], Down syndrome [ 71 , 72 ], cystic fibrosis [ 73 ], Gaucher disease [ 74 , 75 ]). In recent years, there have been many studies on gallstone disease in children.…”
Section: Discussionmentioning
confidence: 99%