Case Reports in Pediatrics (Jan 2019)

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation

  • Leander D. Timothy,
  • Heidi D. Lehrke,
  • Vishal S. Chandan,
  • Amy B. Kolbe,
  • Katryn N. Furuya

DOI
https://doi.org/10.1155/2019/7983824
Journal volume & issue
Vol. 2019

Abstract

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Kabuki syndrome (KS) is a rare disorder primarily associated with mutations in the KMT2D and KDM6A genes. Several tumors have been reported with KS; however, there have been no reports of hepatocellular carcinoma (HCC) or hepatic adenomatosis. We present an adolescent girl with KS and a novel KMT2D mutation who developed diffuse adenomatosis, HCC, and subsequently underwent liver transplantation.