Abstract
Extramedullary hematopoiesis (EMH) is a phenomenon that occurs in hematologic diseases characterized by insufficient/ineffective hematopoiesis. Here we report the management of a left sphenoidal sinus EMH lesion of a 13-year-old boy affected by sickle cells disease (SCD), that was accidentally found during a routine encephalic MRI as a slow-growing space-occupying lesion in the sinus. An excisional biopsy was performed through a left transpterygoid approach and histological examination confirmed the presence of EMH. No procedural complications occurred. This approach allowed to maximize treatment by adding hydroxyurea to transfusional regimen and stabilize the lesion size. NGS for congenital anemias showed that the patient was also heterozygous for the pathogenic variant c.1456C>T p.(Arg486Trp) on the gene PKLR, which is known to cause pyruvate kinase (PK) deficiency.
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