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Split‐liver transplantation in the setting of hepatic herniation due to a congenital diaphragmatic hernia in a down syndrome patient
Author(s) -
Casaccia Marco,
Barabino Gabriele,
Andorno Enzo,
Nicorelli Maurizio,
Porcile Elisa,
Gelli Maximiliano,
Diviacco Pietro,
Valente Umberto
Publication year - 2009
Publication title -
liver transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.814
H-Index - 150
eISSN - 1527-6473
pISSN - 1527-6465
DOI - 10.1002/lt.21597
Subject(s) - medicine , liver transplantation , diaphragmatic hernia , congenital diaphragmatic hernia , diaphragmatic breathing , surgery , hernia , transplantation , pathology , fetus , pregnancy , alternative medicine , biology , genetics
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