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Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening hematologic stem cell disorder characterized by hemoglobinuria, thrombosis, and tendency for bone marrow failure. The rare incidence of PNH in children, its nonspecific clinical presentation, and occasional absence of hemoglobinur...

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Autores principales: Krishnaprasadh, Dharshana, Kaminecki, Inna, Sechser Perl, Anna, Teitelbaum, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590537/
https://www.ncbi.nlm.nih.gov/pubmed/31281702
http://dx.doi.org/10.1155/2019/4930494
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author Krishnaprasadh, Dharshana
Kaminecki, Inna
Sechser Perl, Anna
Teitelbaum, Jonathan
author_facet Krishnaprasadh, Dharshana
Kaminecki, Inna
Sechser Perl, Anna
Teitelbaum, Jonathan
author_sort Krishnaprasadh, Dharshana
collection PubMed
description Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening hematologic stem cell disorder characterized by hemoglobinuria, thrombosis, and tendency for bone marrow failure. The rare incidence of PNH in children, its nonspecific clinical presentation, and occasional absence of hemoglobinuria make the diagnosis challenging. We present a case of a 17-year-old boy who was hospitalized with a history of recurrent abdominal pain, fever, and dark-colored urine. Laboratory tests revealed anemia, thrombocytopenia, and elevated inflammatory markers. Urinalysis was positive for protein and red blood cells, too many to be counted. Complement studies were within normal limits. Abdominal computed tomography showed a segment of the small bowel with wall thickening and signs of possible microperforation. Exploratory laparotomy revealed necrosis of the small bowel, and histological evaluation was suggestive of an autoimmune process with small vessel vasculitis. Bone marrow biopsy showed hypocellular marrow with a decreased number of myeloid cells, normal number of megakaryocytes, and signs of erythroid hyperplasia. Flow cytometry detected deficiency of CD59 leading to the diagnosis of PNH. The patient was treated with eculizumab infusions resulting in significant improvement. This case highlights the need for high clinical suspicion for rare entities such as PNH in patients presenting without hemoglobinuria.
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spelling pubmed-65905372019-07-07 Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient Krishnaprasadh, Dharshana Kaminecki, Inna Sechser Perl, Anna Teitelbaum, Jonathan Case Rep Pediatr Case Report Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening hematologic stem cell disorder characterized by hemoglobinuria, thrombosis, and tendency for bone marrow failure. The rare incidence of PNH in children, its nonspecific clinical presentation, and occasional absence of hemoglobinuria make the diagnosis challenging. We present a case of a 17-year-old boy who was hospitalized with a history of recurrent abdominal pain, fever, and dark-colored urine. Laboratory tests revealed anemia, thrombocytopenia, and elevated inflammatory markers. Urinalysis was positive for protein and red blood cells, too many to be counted. Complement studies were within normal limits. Abdominal computed tomography showed a segment of the small bowel with wall thickening and signs of possible microperforation. Exploratory laparotomy revealed necrosis of the small bowel, and histological evaluation was suggestive of an autoimmune process with small vessel vasculitis. Bone marrow biopsy showed hypocellular marrow with a decreased number of myeloid cells, normal number of megakaryocytes, and signs of erythroid hyperplasia. Flow cytometry detected deficiency of CD59 leading to the diagnosis of PNH. The patient was treated with eculizumab infusions resulting in significant improvement. This case highlights the need for high clinical suspicion for rare entities such as PNH in patients presenting without hemoglobinuria. Hindawi 2019-06-09 /pmc/articles/PMC6590537/ /pubmed/31281702 http://dx.doi.org/10.1155/2019/4930494 Text en Copyright © 2019 Dharshana Krishnaprasadh et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Krishnaprasadh, Dharshana
Kaminecki, Inna
Sechser Perl, Anna
Teitelbaum, Jonathan
Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient
title Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient
title_full Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient
title_fullStr Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient
title_full_unstemmed Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient
title_short Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient
title_sort paroxysmal nocturnal hemoglobinuria: diagnostic challenges in pediatric patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590537/
https://www.ncbi.nlm.nih.gov/pubmed/31281702
http://dx.doi.org/10.1155/2019/4930494
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