A Novel Case of Biliary Atresia in a Premature Neonate with 1p36 Deletion Syndrome

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Journal of Investigative Medicine





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Case report We describe the case of a premature male newborn with 1 p36 deletion syndrome and Biliary Atresia (BA). Patient was born at 28 weeks of gestation via caesarean section after a complicated pregnancy with advanced maternal age, gestational hypertension, and Intra uterine growth restriction. Physical examination was pertinent for low birth weight, hypotonia and dysmorphic features. Chromosomal microarray was performed due to dysmorphism and failure to thrive, and patient was found to have 1 p36 deletion syndrome. At seven weeks of life, BA was suspected due to presence of acholic stools and elevated direct bilirubin. Abdominal imaging failed to visualise the gallbladder, and a hepatobiliary scan confirmed the abscence of a biliary tree. An open liver biopsy showed extensive canalicular cholestasis, mild ductular reaction and fibrosis. Intraoperative cholangiogram showed a diminutive gallbladder and atretic common bile duct. A hepatoportoenterostomy was performed which was well tolerated. Since the first report of 1 p36 deletion syndrome in 1996, increasing number of new phenotypic abnormalities have been reported. Linking of specific anatomic and physiologic defects to gene deletions has yet to be fully achieved, leaving clinicians to rely on reports of previously identified abnormalities. To our knowledge, this is the first case of BA in a patient with 1 p36 deletion syndrome. The authors suggest considering chromosomal microarray testing in patients with suspected BA who have dysmorphic features, especially preterm neonates given their extreme vulnerability.


Medicine and Health Sciences



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