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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Authors
Sara Pestarino
Hematopoietic Stem Cell Transplant Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
Daniela Guardo
Hematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
Frank Rikki Mauriz Canevari Otorhinolaryngology-Head and Neck Surgery Unit, IRCCS San Martino Hospital, Genoa, Italy
Luca Guastini Otorhinolaryngology-Head and Neck Surgery Unit, IRCCS San Martino Hospital, Genoa, Italy
Gianluca Piatelli Neurosurgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
Domenico Tortora
Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
Mariasavina Severino
Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
Diego Criminelli Rossi
Neurosurgery Unit IRCCS San Martino Hospital, Genoa, Italy
Maurizio Miano
Hematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
Carlo Dufour
Hematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
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