https://www.ncbi.nlm.nih.gov/pubmed/31414320 Biliary Atresia
Surg Case Rep. 2019 Aug 14;5(1):132. doi: 10.1186/s40792-019-0688-4.
Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report.
Masui D1, Fukahori S2, Mizuochi T3, Watanabe Y3,4, Fukui K3, Ishii S2, Saikusa N2, Hashizume N2, Higashidate N2, Sakamoto S2, Takato A2, Yoshiura KI5, Tanaka Y2,6, Yagi M2.

Abstract

BACKGROUND:

Biliary 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 PRESENTATION:

A 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.

CONCLUSIONS:

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.