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Case Reports
. 2020 Feb 20;4(1):e36-e39.
doi: 10.1055/s-0040-1702155. eCollection 2020 Jan.

Paroxysmal Nocturnal Hemoglobinuria: An Underestimated Cause of Pediatric Thromboembolism

Christina Griesser  1 , Michael Myskiw  2 , Werner Streif  1
Affiliations
Case Reports

Paroxysmal Nocturnal Hemoglobinuria: An Underestimated Cause of Pediatric Thromboembolism

Christina Griesser et al. TH Open. .

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.

Keywords: PIG-A gene; child; hemolysis; paroxysmal nocturnal hemoglobinuria; thrombosis.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Symptoms and signs typical for paroxysmal nocturnal hemoglobinuria in a cohort of 150 children with confirmed thrombosis treated at the Department of Paediatrics at the Medical University of Innsbruck, Austria, between 2004 and 2013.
See this image and copyright information in PMC

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