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Myelofibrosis: an unusual presentation of vitamin D-deficient rickets
J L Stéphan1, C Galambrun, A Dutour
1Paediatric Haematology and Oncology Unit, Hôpital Nord, Saint Etienne, F-42055, Cx02, France. jlstephan@infonie.fr
Insights
Undiagnosed rickets caused severe myelofibrosis and pancytopenia in a 5-month-old infant. Prompt treatment with vitamin D rapidly resolved these symptoms, highlighting rickets as a critical consideration in pediatric myelofibrosis.
Area of Science:
- Pediatric Hematology
- Nutritional Deficiencies
- Endocrinology
Background:
- Nutritional rickets, a condition caused by vitamin D deficiency, can lead to significant health complications.
- Myelofibrosis, a bone marrow disorder, is rarely associated with nutritional deficiencies in infants.
- Secondary hyperparathyroidism can contribute to bone marrow abnormalities.
Observation:
- A 5-month-old infant presented with pancytopenia and myelofibrosis during winter months.
- The infant was breast-fed and had no other apparent risk factors for bone disease.
- Rickets was diagnosed as the underlying cause of the infant's severe symptoms.
Findings:
- Treatment with oral vitamin D led to a rapid and complete resolution of pancytopenia and myelofibrosis.
- Secondary hyperparathyroidism was identified as the likely mechanism driving the myelofibrosis.
- This case underscores the potential for severe hematological manifestations of rickets.
Implications:
- Nutritional rickets should be considered in the differential diagnosis of myelofibrosis in infants, even in developed countries.
- Early diagnosis and treatment of rickets are crucial to prevent potentially irreversible bone marrow damage.
- Public health initiatives may be needed to ensure adequate vitamin D levels in at-risk populations, including infants in northern climates.
Unlabelled:
We present the case of a breast-fed 5-month-old infant who presented with pancytopenia, secondary to intense myelofibrosis during the winter months because of undiagnosed rickets. The patient responded to oral vitamin D with rapid resolution of symptoms. Secondary hyperparathyroidism was the probable cause of the myelofibrosis.
Conclusion:
Although nutritional rickets remains a problem in developing countries, children in northern climates in industrialized countries may also be at risk. Rickets must be considered when assessing myelofibrosis in a very young child.