Nutritional rickets presenting with myelofibrosis

Area of Science:

• Pediatrics
• Hematology
• Endocrinology

Background:

• Rickets, a condition of bone softening, can occur in infants due to vitamin D deficiency.
• Myelofibrosis is a bone marrow disorder characterized by fibrosis, often associated with cytopenias.
• Co-occurrence of rickets and myelofibrosis in infants is rare, presenting complex clinical challenges.

Observation:

• A 10-month-old breastfed infant presented with clinical and radiological signs of rickets.
• The infant also exhibited anemia and hepatosplenomegaly, suggestive of extramedullary hematopoiesis or other complications.
• Bone marrow biopsy revealed myelofibrosis, indicating a significant hematological comorbidity.

Findings:

• Therapeutic supplementation with vitamin D led to significant clinical improvement.
• Radiographic evidence of rickets resolved, and bone mineralization normalized.
• Anemia resolved, and hepatosplenomegaly regressed, indicating improved hematological status.
• Growth and developmental parameters showed marked improvement following treatment.

Implications:

• This case underscores the critical role of vitamin D in managing rickets, even in the presence of myelofibrosis.
• Early diagnosis and aggressive vitamin D therapy can reverse severe manifestations of rickets and improve associated hematological abnormalities.
• Further research into the interplay between vitamin D deficiency and myelofibrosis in pediatric populations is warranted.