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Thornton KM, Nyp MF, Music Aplenc L, et al. An unusual case of rapidly progressive hyperbilirubinemia. Case Rep Pediatr. 2013;2013:284029doi: 10.1155/2013/284029.
Thornton, K. M., Nyp, M. F., Music Aplenc, L., Jones, G. L., Carpenter, S. L., Guest, E. M., Shapiro, S. M., & Manimtim, W. M. (2013). An unusual case of rapidly progressive hyperbilirubinemia. Case reports in pediatrics, 2013284029. https://doi.org/10.1155/2013/284029
Thornton, Kimberly M, et al. "An unusual case of rapidly progressive hyperbilirubinemia." Case reports in pediatrics vol. 2013 (2013): 284029. doi: https://doi.org/10.1155/2013/284029
Thornton KM, Nyp MF, Music Aplenc L, Jones GL, Carpenter SL, Guest EM, Shapiro SM, Manimtim WM. An unusual case of rapidly progressive hyperbilirubinemia. Case Rep Pediatr. 2013;2013:284029. doi: 10.1155/2013/284029. Epub 2013 Oct 29. PMID: 24288641; PMCID: PMC3830790.
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Case Rep Pediatr. 2013;2013:284029. doi: 10.1155/2013/284029. Epub 2013 Oct 29.

An unusual case of rapidly progressive hyperbilirubinemia.

Case reports in pediatrics

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

Affiliations

  1. 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.

PMID: 24288641 PMCID: PMC3830790 DOI: 10.1155/2013/284029

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.

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