1: Transplantation 1995 Nov 27;60(10):1095-8

Orthotopic liver transplantation for Crigler-Najjar type I disease in six children

Sokal EM, Silva ES, Hermans D, Reding R, de Ville de Goyet J, Buts JP, Otte JB
Department of Pediatrics and Pediatric Surgery, St Luc Hospital, Catholic
University of Louvain, Brussels, Belgium 
Abstract
Hyperbilirubinemia in Crigler-Najjar disease type I (CN) can be partially
controlled by daily phototherapy, but these children remain at permanent risk of
developing brain damage due to kernicterus. Because liver transplantation is the
only available curative treatment for liver-based inborn errors of metabolism,
orthotopic liver transplantation (OLT) was performed in six patients with CN.
Mean age at surgery was 52.5 months (range 27 to 100). Despite a mean daily
phototherapy of 12.4 +/- 0.8 hr, mean bilirubin of the 6 patients was 388
microM/L (range 175 to 703) before OLT; one of them was also being treated with
tin-protoporphyrin. All 6 had elevated AST/ALT, ranging from 1.4 to 6 times
upper normal values. Complications occurred in three patients after OLT,
including miliary tuberculosis in one, graft rejection and retransplantation in
one, and hepatic artery thrombosis in one. All patients survive with normal
serum bilirubin level (follow up 6 to 116 months). Four have normal enzymes on
post-OLT follow-up (30 to 95 months), follow a normal education program, and
have a normal social life. One recently transplanted patient has progressively
normalizing liver function tests 6 months after OLT. One patient transplanted at
8 y.o. (now 116 months post-OLT) has moderate neurological delay due to
pretransplant kernicterus, and posttransplant chronic persistent hepatitis. Our
series shows that OLT cures hyperbilirubinemia in CN patients, with an excellent
survival prospect. The procedure should be decided upon before neurological
sequelae occur, since these persist after transplantation