A preterm neonate with infantile liver failure syndrome 1 due to leucyl-tRNA synthetase 1 gene (LARS1) mutations with a histopathologic phenotype of neonatal hemochromatosis.

We report a case of a premature, growth-restricted female infant with feeding intolerance and coagulopathy, treated initially for sepsis, who progressed to neonatal acute liver failure and end-stage hepatic encephalopathy after a prolonged hospitalization with extensive diagnostic evaluation, and was found by autopsy to have histopathologic evidence of neonatal hemochromatosis in addition to a rare autosomal recessive disorder of infantile liver failure syndrome type 1.