Article Text

PDF
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
View Full Text

Statistics from Altmetric.com

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.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.