Anemia and hepatosplenomegaly as presenting features in a child with rickets and secondary myelofibrosis

Barbara A Gruner1, Thomas S DeNapoli, Said Elshihabi

  • 1Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas, USA.

Insights

Severe rickets can cause anemia and enlarged spleen/liver in infants, leading to secondary myelofibrosis. This case highlights rickets as a key differential diagnosis for pediatric hepatosplenomegaly.

Area of Science:

  • Pediatric Hematology/Oncology
  • Pediatric Endocrinology
  • Pediatric Pathology

Background:

  • Anemia and hepatosplenomegaly are frequent referral reasons in pediatric hematology/oncology.
  • Severe rickets is an underrecognized cause of these pediatric findings.
  • Rickets can precipitate secondary myelofibrosis and myeloid metaplasia.

Observation:

  • Presents a case of an infant with severe rickets.
  • The infant exhibited secondary myelofibrosis and myeloid metaplasia.
  • This clinical presentation led to significant hepatosplenomegaly.

Findings:

  • Severe rickets can manifest with hematological abnormalities.
  • Secondary myelofibrosis is a potential complication of severe rickets.
  • Hepatosplenomegaly in infants warrants a broad differential diagnosis.

Implications:

  • Highlights the importance of considering rickets in the differential diagnosis of pediatric anemia and hepatosplenomegaly.
  • Emphasizes the link between severe rickets and myeloproliferative disorders.
  • Informs pediatric hematologist-oncologists on managing complex pediatric cases involving bone metabolism and hematopoiesis.

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