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[Erythrocytosis in a 4 year-old child: diagnostic, prognostic, therapeutical problems]
A Zelinsky-Gurung1, F Bernaudin, G Tchernia
1Service de pédiatrie, hôpital intercommunal, Créteil, France.
Insights
Pure erythrocytosis, a rare childhood condition, was observed in a 4-year-old boy with elevated erythropoietin levels. This congenital case required phlebotomy and iron therapy for management.
Area of Science:
- Pediatric Hematology
- Rare Diseases
- Erythropoiesis
Background:
- Pure erythrocytosis is exceptionally rare in pediatric populations.
- This case report details a 4-year-old boy diagnosed with this condition.
Observation:
- The patient presented with significantly elevated red blood cell counts, hemoglobin, and hematocrit.
- Investigations ruled out secondary polycythemia and revealed normal myeloid cell karyotypes and erythroid precursor cultures.
- Notably, blood erythropoietin concentration was markedly elevated (20-293 mU/ml).
Findings:
- The child's pure erythrocytosis was linked to high erythropoietin production.
- Treatment involved phlebotomy and iron therapy, with a recurrence of symptoms after one year.
- The etiology remained undetermined, suggesting a probable congenital origin.
Implications:
- This case highlights the diagnostic challenges of congenital pure erythrocytosis in children.
- Further research is needed to understand the link between high erythropoietin secretion and potential receptor dysfunction.
- Effective management strategies, including phlebotomy, are crucial for such rare hematological disorders.
Background:
Pure erythrocytosis is rare in children. This report describes such a case.
Case Report:
A 4 year-old boy was admitted because erythrocytosis had been found routinely before adenoidectomy. He was born in Guatemala, was adopted just after his birth, and had been living in France since that age. Clinical examination was normal. His hemogram showed: erythrocytes: 8,800,000/mm3; hemoglobin: 20.1 g/dl; hematocrit: 66.8%; reticulocytes: 262,000/mm3; platelets: 200,000/mm3; leukocytes: 6,800/mm3. The patient had been given iron salts for the past 3 months without an earlier hemogram. Total red cell mass was 1200 ml (N: 600). The myelogram was normal as was the leukocyte alkaline phosphatases, serum lysozyme and vitamin B12. Blood ferritin was low (3.5 ng/ml). In vitro cultures of erythroid precursors were normal, as was the karyotype of myeloid cells. Blood erythropoietin concentration was 20-293 mU/ml (N:4-14). All the causes of secondary polycythemia were eliminated by appropriate investigations. The patient was treated by phlebotomy in aliquots of 25 ml/kg, twice a month, for 10 months, and was given iron therapy. At the end of treatment, his hemoglobin was 14 g/dl and his hematocrit was 45%. Both progressively increased again one year later, requiring new phlebotomies. The patient was followed for 4 years but no cause for this erythrocytosis was found; it was probably congenital in origin.
Conclusion:
This case of pure erythrocytosis was associated with elevated erythropoietin production. Whether this high secretion is related to receptor dysfunction remains to be determined.