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Paroxysmal nocturnal hemoglobinuria with onset in childhood: a case report
P J Yaranal1, D Basu, P Narayanan
1Department of Pathology, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India.
Insights
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare cause of childhood anemia and bone marrow failure. Early diagnosis in children presenting with these symptoms is crucial for timely treatment.
Area of Science:
- Hematology
- Pediatric Medicine
- Rare Diseases
Background:
- Childhood anemia and bone marrow failure are complex conditions requiring thorough investigation.
- Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired, rare disorder characterized by complement-mediated hemolysis.
Observation:
- A 12-year-old boy experienced recurrent anemia, leading to the identification of pancytopenia.
- Bone marrow examination revealed hypercellularity, erythroid hyperplasia, and depleted iron stores.
- Diagnostic tests, including Ham's test and the sucrose lysis test, confirmed PNH.
Findings:
- The patient's diagnosis of paroxysmal nocturnal hemoglobinuria was delayed by approximately two years.
- This case highlights the rarity of PNH in pediatric populations.
Implications:
- Pediatricians and hematologists should consider PNH in children with unexplained anemia or bone marrow failure.
- Prompt diagnosis of PNH in children can lead to earlier intervention and improved outcomes.
- Raising awareness of PNH in childhood is essential for reducing diagnostic delays.
Abstract:
A twelve-year-old boy presented with recurrent episodes of anemia. Complete blood counts showed pancytopenia. Bone marrow was hypercellular with erythroid hyperplasia and depleted stores of iron. Positive Ham's test and sucrose lysis test revealed that he had paroxysmal nocturnal hemoglobinuria. There was a delay of nearly two years in the diagnosis in this patient. Paroxysmal nocturnal hemoglobinuria is rare in childhood. It must however be considered in a child who presents with unexplained anemia or bone marrow failure so that an early and accurate diagnosis is reached.