Split-liver transplantation in the setting of hepatic herniationdue to a congenital diaphragmatic hernia in a down syndrome patient.

Trisomy 21 (Down syndrome) is associated with several autoimmune diseases such as thyroiditis, celiac disease, insulin-dependent diabetes, and congenital malformations of different anatomic districts (most of all the cardiac district). In the literature, anecdotal cases of chronic autoimmune hepatitis and 2 individual cases of primary sclerosing cholangitis (PSC) in carriers of trisomy 21 have been described. Congenital diaphragmatic hernia (CDH) is a relatively common anomaly with an incidence of 1 in 3000 births. Although the cause is not known, it represents the end result of 1 or more genetic defects. The association between CDH and chromosome abnormalities has been found in 10% to 34% of patients, as stated by Witters et al. and Howe et al. Here we describe a case of end-stage liver disease (ESLD) due to PSC in a Down syndrome patient who needed split-liver transplantation. A diagnosis of right CDH with intrathoracic liver migration, which was unsuspected from his medical history and clinical findings, was made with imaging techniques.