CC BY 4.0 · TH Open 2020; 04(01): e36-e39
DOI: 10.1055/s-0040-1702155
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Paroxysmal Nocturnal Hemoglobinuria: An Underestimated Cause of Pediatric Thromboembolism

Christina Griesser
1  Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria
,
Michael Myskiw
2  Institute for Diagnostic and Interventional Radiology, RoMed Hospital Rosenheim, Rosenheim, Germany
,
Werner Streif
1  Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria
› Author Affiliations
Further Information

Publication History

14 September 2019

13 January 2020

Publication Date:
20 February 2020 (online)

  

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a chronic disease caused by complement-mediated hemolysis. Clinical symptoms include intravascular hemolysis, nocturnal hemoglobinuria, thromboses, cytopenia, fatigue, abdominal pain, and a strong tendency toward bone marrow failure. It is a rare disease, especially in children, with high mortality rates without appropriate treatment.

We here present the case of a 17-year-old girl with unprovoked muscle vein thrombosis. Flow cytometric analysis showed deficiency of glycosyl-phosphatidylinositol-anchored membrane proteins on all three hematopoietic cell lines and confirmed the diagnosis of PNH. Treatment with the monoclonal antibody eculizumab achieved long-term remission.

As flow cytometry is normally not part of the routine diagnostics for pediatric thrombosis, awareness is crucial and PNH is important to consider in all children with thrombosis at atypical sites and abnormalities in blood counts with regard to hemolysis and cytopenia.