Abstract
BackgroundBiliary atresia (BA) cases are generally not associated with congenital abnormalities. However, accurate diagnosis of BA is often challenging because the histopathological features of BA overlap with those of other pediatric liver diseases and rarely overlap with those of other genetic disorders. We experienced a rare case of BA with the histopathological finding of bile duct paucity, a gene mutation in KDM6A, and KS-like phenotypes.Case presentationA male baby was diagnosed with biliary atresia by intraoperative cholangiography at 4 days of age, and histological examination following a liver biopsy revealed a paucity of bile ducts and several typical clinical findings of Alagille syndrome. However, Alagille syndrome was ruled out after neither JAG1 nor NOTCH2 gene mutations were identified. Whole-exome sequencing on DNA from his parents was additionally performed to examine other possible syndromic disorders, and a mutation was identified in KDM6A. However, Kabuki syndrome was not diagnosed as a result.The histological finding of interlobular bile duct paucity and the genetic mutation in KDM6A, as well as several clinical findings consistent with Alagille syndrome or Kabuki syndrome, made it difficult to confirm the diagnosis of BA.ConclusionsBased on the interesting findings of the present case, we hypothesized that KDM6A is associated with hepatic malformations via a connection with the Notch signaling pathway.
Highlights
Biliary atresia (BA) cases are generally not associated with congenital abnormalities
Based on the interesting findings of the present case, we hypothesized that KDM6A is associated with hepatic malformations via a connection with the Notch signaling pathway
Bögershausen et al reported on a Kabuki syndrome (KS) patient with a KMT2D mutation who presented with neonatal cholestasis with bile duct paucity in addition to the typical clinical features of KS, their case did not show pathogenic variants in either JAG1 or NOTCH2; they hypothesized that the KMT2D mutation might have affected several key Notch signaling components [24]
Summary
Biliary atresia (BA) cases are generally not associated with the monogenic disorder. accurate diagnosis of BA is often challenging because the histopathological features of BA overlap with those of other pediatric liver diseases and rarely overlap with those of other genetic disorders and syndromes [1,2,3]. Kabuki syndrome (KS) is a rare, multiple congenital anomaly syndrome demonstrating several distinctive clinical findings, and with identified gene mutations in KMT2D on chromosome 12 and KDM6A on chromosome X [4]. We report a rare case of BA with the histopathological finding of bile duct paucity, a gene mutation in KDM6A, and KS-like phenotypes. Masui et al Surgical Case Reports (2019) 5:132 size, in the fetus’ abdomen (Fig. 1) beneath the liver, suggesting the diagnosis of a choledochal cyst or cystic BA. Ultrasonography revealed a cystic mass, 43 × 32 mm in size, at the porta hepatis, without dilatation of the intrahepatic bile duct. The postnatal examinations suggested the diagnosis of cystic BA or choledochal cyst. Intraoperative cholangiography showed a tree pattern of intrahepatic bile ductules (Nio’s classification), a cystic common bile duct, and no connection to the intestinal lumen (Fig. 2a, b). Cerebral magnetic resonance imaging showed no abnormalities, and cardiac ultrasonography detected
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