Hypereosinophilia and Severe Bone Disease in an African Child: An Unexpected Diagnosis

Bota, S; Alves, P; Constantino, C; Maia, R

http://hdl.handle.net/10400.17/4691

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Abstract(s)

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.

Keywords

Adrenal Cortex Hormones / administration & dosage Adrenal Cortex Hormones / therapeutic use* Africa / epidemiology Albendazole / administration & dosage Albendazole / therapeutic use Anthelmintics / therapeutic use Antiparasitic Agents / therapeutic use Bone Diseases / diagnostic imaging Bone Diseases / pathology Child, Preschool Drug Combinations Hypereosinophilic Syndrome / drug therapy Hypereosinophilic Syndrome / genetics* Hypereosinophilic Syndrome / pathology Imatinib Mesylate / administration & dosage Imatinib Mesylate / therapeutic use Ivermectin / administration & dosage Ivermectin / therapeutic use Oncogene Proteins, Fusion Protein Kinase Inhibitors / therapeutic use Rare diseases Receptor, Platelet-Derived Growth Factor alpha Strongyloides stercoralis / immunology Strongyloidiasis / complications Strongyloidiasis / diagnosis Strongyloidiasis / parasitology* Treatment Outcome mRNA Cleavage and Polyadenylation Factors HDE IMA HDE PED