Hyperbilirubinemia in Crigler-Najjar disease type I (CN) can be partia
lly controlled by daily phototherapy, but these children remain at per
manent risk of developing brain damage due to kernicterus, Because liv
er transplantation is the only available curative treatment for liver-
based inborn errors of metabolism, orthotopic liver transplantation (O
LT) 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 mu M/L (range 175 t
o 703) before OLT; one of them was also being treated with tin-protopo
rphyrin. All 6 had elevated AST/ALT, ranging from 1.4 to 6 times upper
normal values, Complications occurred in three patients after OLT, in
cluding miliary tuberculosis in one, graft rejection and retransplanta
tion in one, and hepatic artery thrombosis in one, All patients surviv
e 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 test
s 6 months after OLT, One patient transplanted at 8 y.o. (now 116 mont
hs post-OLT) has moderate neurological delay due to pretransplant kern
icterus, and posttransplant chronic persistent hepatitis, Our series s
hows that OLT cures hyperbilirubinemia in CN patients, with an excelle
nt survival prospect, The procedure should be decided upon before neur
ological sequelae occur, since these persist after transplantation.