Severe perinatal liver disease associated with fetal thrombotic vasculopathy

Three neonates with fetal thrombotic vasculopathy in the placenta and severe neonatal liver disease are described. Symptoms included a bleeding disorder on the first day of life, followed by direct hyperbilirubinemia and elevated liver transaminases. All patients also had evidence of thrombosis outside the placenta, including cerebral infarct in two infants and thrombosis of the inferior vena cava in one infant. Liver disease was demonstrated to be thrombotic in one infant who died with Budd-Chiari syndrome. Two infants survived and had liver biopsy with cholestasis, bile duct proliferation, and portal fibrosis demonstrated at 4 weeks and 11 weeks of age, respectively. The etiology of thrombosis is unknown, though in one patient an excessively long and coiled umbilical cord may be implicated. The prenatal onset of thrombosis suggests an inherited or acquired thrombophilic state. In cases of enigmatic neonatal liver disease, an association with thrombosis should be considered and thrombi sought in placenta, umbilical cord, major blood vessels, and other organs. Evaluation for a hypercoagulable state is also suggested.