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Rare disease
CASE REPORT
Hypereosinophilia and severe bone disease in an African child: an unexpected diagnosis
  1. Sofia Bota1,
  2. Pedro Alves2,
  3. Claudia Constantino3 and
  4. Raquel Maia1,4
  1. 1 Women, Child and Adolescents Department, Hospital Dona Estefania, Lisboa, Portugal
  2. 2 Radiology Department, Hospital Dona Estefania, Lisboa, Portugal
  3. 3 Pediatric Oncology Department, Instituto Portugues de Oncologia de Lisboa Francisco Gentil EPE, Lisboa, Portugal
  4. 4 Pediatric Hematology Unit, Hospital Dona Estefania, Lisboa, Portugal
  1. Correspondence to Dr Sofia Bota, sofiarbota{at}gmail.com

Abstract

Hypereosinophilic syndromes are rare in children. Sporadic, mild-severity FIP1L1-platelet-derived growth factor receptor α (PDGFRα) rearrangement cases have been reported, mainly in boys. We present the case of a 5-year-old girl referred from her African country of birth, due to severe constitutional symptoms, multifocal bone pain, headache, gastrointestinal complaints, cardiomyopathy and unexplained hypereosinophilia. She presented multiple end-organ diseases and striking bone involvement. Although she had a positive serology for Strongyloides stercoralis, extensive evaluation detected a FIP1L1-PDGFRA fusion gene. Systemic corticosteroids and low-dose imatinib were started and the child became asymptomatic. After 9 months of treatment, FIP1L1-PDGFRA was no longer detected.

  • tropical medicine (infectious disease)
  • paediatric oncology
  • radiology

https://doi.org/10.1136/bcr-2018-227653

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    Footnotes

    • Contributors SB: wrote and reviewed the manuscript. PA: radiological study and description, and image editing. CC: reviewed the main text, wrote the follow-up section and collected the patient’s consent form. RM: wrote and reviewed the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Patient consent for publication Parental/guardian consent obtained.