Neurological involvement in Crigler-Najjar type I syndrome: Role of liver transplantation

and umbilical venous catheter (UVC) placement, neonatal illnesses, type of presentation, results on pro-thrombotic screening and features at the last follow up. Results: We collected data on 187 patients from 9 centres; 46% were female, mean age at diagnosis was 3.8 years (SD 3.7). The neonatal associated factors were: presence of prematurity in 102/172 (59%), neonatal illnesses 70/132 (53%), history of UVC 107/165 (65%), congenital malformations 26/132 (19%), deep infections 11/132 (5%). The type of presentation was: detection of splenomegaly in 68 (39.5%), GI bleeding in 63 (37%), hypersplenism in 9 (5.2%), incidental in 32/172 patients (18%); 87% had oesophageal varices. Pro-thrombotic screening was positive in 30/76 (39.4%). After a follow up of 11.2 years (SD 4.8) 66% had been managed conservatively, 34% underwent surgery or TIPS. On univariate analysis a huge splenomegaly, GI bleeding and severe hypersplenism were predictors of surgery or TIPS (p<0.05). Conclusions: EHPVO is strictly associated with neonatal disorders. Predictors of worse outcome are GI bleeding and severe hypersplenism. A liver Doppler performed before discharge from the neonatal unit may allow an early recognition of the disease, improve the management and avoid the occurrence of bleeding.