TY - JOUR
T1 - Complete absence of the extrahepatic biliary tree in a newborn with pigmented stools
AU - Hartmann, Phillipp
AU - Carter, Rebecca
AU - Keller, Benjamin
AU - Saenz, Nicholas C.
AU - Schwarz, Kathleen B.
N1 - Funding Information:
FUNDING : Supported in part by National Institutes of Health grant K12 HD 850-36 (to Dr Hartmann). Funded by the National Institutes of Health (NIH).
Publisher Copyright:
Copyright © 2021 by the American Academy of Pediatrics
PY - 2021/7/1
Y1 - 2021/7/1
N2 - “Yellow stools in neonatal cholestasis exclude biliary atresia.” This conventional wisdom led to the development of the infant stool color card, which alerts parents to seek medical referral when pale stools are observed, a strategy that has been shown to improve survival in infants with biliary atresia (BA). Here, we present a case of a newborn with significant direct hyperbilirubinemia (direct bilirubin level of up to 9.2 mg/dL on day of life 10) who continued to produce colored stools. Whole-genome sequencing results were negative for genetic causes of cholestasis. Hepatobiliary scintigraphy findings were nonexcretory. A liver biopsy specimen revealed cholestasis, ductular hyperplasia, giant cell formation, minimal inflammation, minimal portal or periportal fibrosis, and no evidence of viral changes. On day of life 38, during the exploratory laparotomy, the patient was found to have complete absence of the extrahepatic biliary tree, or biliary aplasia, possibly a rare, severe form of BA. This report aims to increase our vigilance and help prevent diagnostic error in patients with signs and symptoms of BA who may produce pigmented stools. Primary care physicians should hence refer an infant (early and urgently) to a pediatric gastroenterologist for further workup for a direct bilirubin level >1.0 mg/dL with any total bilirubin level, irrespective of the color of the infant’s stools.
AB - “Yellow stools in neonatal cholestasis exclude biliary atresia.” This conventional wisdom led to the development of the infant stool color card, which alerts parents to seek medical referral when pale stools are observed, a strategy that has been shown to improve survival in infants with biliary atresia (BA). Here, we present a case of a newborn with significant direct hyperbilirubinemia (direct bilirubin level of up to 9.2 mg/dL on day of life 10) who continued to produce colored stools. Whole-genome sequencing results were negative for genetic causes of cholestasis. Hepatobiliary scintigraphy findings were nonexcretory. A liver biopsy specimen revealed cholestasis, ductular hyperplasia, giant cell formation, minimal inflammation, minimal portal or periportal fibrosis, and no evidence of viral changes. On day of life 38, during the exploratory laparotomy, the patient was found to have complete absence of the extrahepatic biliary tree, or biliary aplasia, possibly a rare, severe form of BA. This report aims to increase our vigilance and help prevent diagnostic error in patients with signs and symptoms of BA who may produce pigmented stools. Primary care physicians should hence refer an infant (early and urgently) to a pediatric gastroenterologist for further workup for a direct bilirubin level >1.0 mg/dL with any total bilirubin level, irrespective of the color of the infant’s stools.
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U2 - 10.1542/peds.2020-038596
DO - 10.1542/peds.2020-038596
M3 - Article
C2 - 34398808
AN - SCOPUS:85109035754
SN - 0031-4005
VL - 148
JO - Pediatrics
JF - Pediatrics
IS - 1
M1 - e2020038596
ER -