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An unusual case of rapidly progressive hyperbilirubinemia. 2013

Kimberly M Thornton, and Michael F Nyp, and Lejla Music Aplenc, and Gary L Jones, and Shannon L Carpenter, and Erin M Guest, and Steven M Shapiro, and Winston M Manimtim
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.

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.

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