title: An unusual case of rapidly progressive hyperbilirubinemia.
abstract: We present an unusual case of hyperbilirubinemia with rapid early progression leading to bilirubin encephalopathy in a term neonate. Despite early recognition and intervention, the total serum bilirubin reached a maximum level of 39 mg/dL at 32 hours of life. Prior to an emergent exchange transfusion, the patient's diagnostic evaluation was significant for Coombs-negative microangiopathic hemolytic anemia and thrombocytopenia. Further testing revealed a deficiency of ADAMTS13 protein, or von Willebrand factor-cleaving protease, a finding diagnostic of congenital thrombotic thrombocytopenic purpura, or Upshaw-Schulman syndrome. This rare disease is often misdiagnosed, especially in the newborn period.
authors.affiliation: Division of Neonatology-Perinatology, Children's Mercy Hospitals and Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA ; School of Medicine, University of Missouri-Kansas City, 2411 Holmes Road, Kansas City, MO 64108, USA.
authors.forename: Kimberly M
authors.initials: KM
authors.lastname: Thornton
authors.forename: Michael F
authors.initials: MF
authors.lastname: Nyp
authors.forename: Lejla
authors.initials: L
authors.lastname: Music Aplenc
authors.forename: Gary L
authors.initials: GL
authors.lastname: Jones
authors.forename: Shannon L
authors.initials: SL
authors.lastname: Carpenter
authors.forename: Erin M
authors.initials: EM
authors.lastname: Guest
authors.forename: Steven M
authors.initials: SM
authors.lastname: Shapiro
authors.forename: Winston M
authors.initials: WM
authors.lastname: Manimtim