Abstract
Choleithiasis is very rare in neonates. Children with Downs syndrome are at an increased risk of developing lithiasis.There are very few reports of cholelithiasis in infants with Down’s syndrome but none in neonates. Here we report a case of Down’s syndrome presenting with cholelithiasis in the neonatal period. We highlight the fact that these children should be monitored for cholethithiasis.
Highlights
Down syndrome is the most common chromosomal disorder with an incidence of 1 in 733 live births [1].in the first week of life
We report a newborn with Trisomy 21 who presented with asymptomatic cholelithiasis
A female neonate with facial dysmorphism [figure:1] born to a 22 year old mother out of a non consanguinous couple was diagnosed with Trisomy 21
Summary
Down syndrome is the most common chromosomal disorder with an incidence of 1 in 733 live births [1]. Scan done on 5th month did not show any anomalies. The incidence of gallstones in Down syndrome is 6.9% and biliary sludge is 2.1%. The constellation of findings in Down syndrome was found to be due to Trisomy 21 in 1959 by Lejeune and his coworkers [2]. The typical phenotype of Trisomy 21 hasn’t changed over years there have been some reports of rare associations like biliary sludging, cholelithiasis, Meckels diverticulum etc. With Down syndrome [3,4,5]. We report a newborn with Trisomy 21 who presented with asymptomatic cholelithiasis
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