Paroxysmal Nocturnal Hemoglobinuria: Diagnostic Challenges in Pediatric Patient

Abstract

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.

Herlyn Werner Wunderlich Syndrome Presenting with Ischemic Stroke due to Suspected Paroxysmal Nocturnal Hemoglobinuria: A Case Report

“… 7 Manifestation of anemia during the ischemic event supports the hypothesis of arterial thrombus formation as part of the hemolytic process. 8 …”

C-Reactive Protein: Pathophysiology, Diagnosis, False Test Results and a Novel Diagnostic Algorithm for Clinicians

“…Apart from Kawasaki disease, in which data are contrasted, some authors believe that arteriosclerosis is an autoimmune condition; hsCRP has been correlated with disease severity, and a study found that SNPs affect arterial pulse wave velocity in healthy people [ 672 , 673 ]. Studies on paroxysmal nocturnal hemoglobinuria and CRP are limited, and notably elevated CRP values can be seen in some case reports—possibly in relapses [ 674 , 675 ]. Data on acquired hemolytic anemia or hemophilia anemia (acquired factor VIII deficiency) and CRP are limited, and until now, notably elevated CRP levels have been reported during other underlying medical conditions, yet there have been patients reported with significantly increased CRP values possibly in relapses.…”

A Rare Case of Paroxysmal Nocturnal Hemoglobinuria With Bilateral Renal Vein Thrombosis

“…The loss of CD55 and CD59, two glycosylphosphatidylinositol (GPI)-anchored proteins on red blood cell surfaces, from mutations in the X-linked phosphatidylinositol glycan class A (PIGA) gene, causes unrestricted proliferation of complement activation resulting in hemolysis [ 1 ]. With a prevalence of one to ten in a million population, PNH presents equally in both genders, predominantly in adults, whereas pediatric populations make up 5%-10% of the reported cases [ 2 , 3 ].…”