Ittero neonatale e malattia di Nieman-Pick tipo C

A case of early onset Nieman-Pick type C disease, with neonatal onset of mixed hyperbilirubinemia and increased aminotransferases, and later development of hypotonia and psychomotor delay, is reported. The congenital, functional and metabolic causes of neonatal jaundice are described and the diagnostic approach to the reported case is discussed.