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CASE REPORT
Year : 2016  |  Volume : 5  |  Issue : 2  |  Page : 112-114

Duodenal atresia and neonatal cholestasis in R117H cystic fibrosis


Department of Surgery (Pediatric Surgery), Rush University Medical Center, Chicago, IL, USA

Correspondence Address:
Jamie Harris
Department of Surgery (Pediatric Surgery), Rush University Medical Center, 1725 W. Harrison St. Suite 710, Chicago, IL 60612
USA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4847.179911

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Cystic fibrosis (CF) has 20% associated rate of neonatal cholestasis. This presents in classic type CF, which initially can be confused with biliary atresia. Additionally, CF has been described with intestinal atresias but not duodenal atresia (DA). This is a case presentation highlighting a previously unreported presentation of R117H 5T CF mutation: A mutation that has recently been described and is not well-characterized. A retrospective review of single case was done. The newborn screen was sent per protocol. A 32 and 6/7 week gestation male was born with DA. Perinatal testing showed R117H mutation and 5T variant on separate chromosomes. His DA was repaired at 4 weeks of life. He had persistent jaundice, hepatobiliary iminodiacetic acid scan failed to identify the gallbladder, and raising concern for biliary atresia. At laparotomy, biliary tree was found to be normal on cholangiogram. Liver biopsy showed depleted interlobular bile ducts, with cholangiolar proliferation, consistent with CF induced cholestasis. This is an abnormal presentation for CF induced neonatal cholestasis and DA in the R117H 5T mutation that traditionally has been described as mild/atypical presentation of CF. Therefore, patients with this mutation who present with persistently elevated bilirubin should be evaluated for liver disease associated with CF.


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