RESUMO
Introduction: Adrenal masses are a rare diagnosis in children, with bilateral masses even less common. At present, appearance of the mass on imaging and histology can give important clues to the diagnosis; however, there is significant overlap in 10-30% of cases and it can be difficult to distinguish benign from malignant adrenal masses. As a result, the clinical presentation remains a large part of the diagnostic process, as well as thorough endocrinology evaluation to determine if the tumor is functional versus nonfunctional. Case Presentation: We present a recent case of bilateral adrenal masses in a pediatric patient at our institution, with an unusual diagnosis of histiocytosis. Conclusion: In this case, the diagnosis was unclear, until genetic testing and pathology allowed for expedient diagnosis and targeted therapy for this patient. We hope that presenting this case will increase physician awareness of this condition and expedite diagnosis and treatment in other patients with this rare presentation.
RESUMO
INTRODUCTION: Wiskott-Aldrich syndrome (WAS) serves as the prototype of how variants in a gene, which encodes a protein central to actin cytoskeletal homeostasis can manifest clinically in a variety of ways including infection, atopy, autoimmunity, inflammation, bleeding, neutropenia, non-malignant lymphoproliferation, and malignancy. Despite the discovery of the WAS gene almost 30 years ago, our understanding of the pathophysiological mechanisms underlying WAS continues to unfold. AREAS COVERED: This review will provide an overview of the approach to the diagnosis of WAS as well as the management of its associated complications. Advances in the use of allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy as well as the associated challenges unique to WAS will be discussed. EXPERT OPINION: Basic research, combined with clinical research focusing on longitudinal analysis of WAS patients, will help clarify determinants that influence WAS pathogenesis as well as clinical complications and outcomes. Advances in curative approaches including the use of alternative donor HSCT for WAS continue to evolve. Gene therapy employing safer and more effective protocols ensuring full correction of WAS will provide life-saving benefit to WAS patients who are unable to undergo HSCT.