ASSOCIATION BETWEEN HYPER-IGE SYNDROME AND SWYER-JAMES-MACLEOD SYNDROME IN A PEDIATRIC PATIENT: A CASE REPORT

Abstract

Introduction: Hyper-IgE Syndrome, also known as Job's Syndrome, is a rare immunological condition characterized by elevated levels of immunoglobulin E (IgE), which is associated with recurrent skin and lung infections, as well as skeletal abnormalities. Since its initial description in 1966, this syndrome has challenged clinical management, especially due to the persistence of skin abscesses and Staphylococcus aureus infections. Swyer-James-MacLeod Syndrome, or Hyperlucent Lung, is a lung condition associated with respiratory infections in childhood, which results in changes in pulmonary vascularization and ventilation. This study aims to explore the relationship between these two syndromes in a pediatric patient. Objective: To document and discuss the care path of an eight-year-old child diagnosed with Hypergammaglobulinemia E and Hyperlucent Lung Syndrome, contributing to the understanding of the interactions between these rare conditions. Methods: This study consists of a descriptive case report based on the retrograde analysis of the medical records of L.F.C., a patient treated at a university hospital. The analysis included clinical, laboratory and imaging information, as well as therapeutic interventions performed. Data were collected systematically, ensuring the inclusion of information on recurrent infections and the manifestations associated with each syndrome. Clinical evaluation included a detailed physical examination and laboratory tests to quantify immunoglobulin levels. Imaging tests, such as chest CT scans and lung scans, were performed to assess for the presence of hyperlucency and perfusion changes. Results: L.F.C. had a history of recurrent infections, including twelve episodes of pneumonia, with complications such as septicemia and pleural effusions. Cultures of cutaneous abscesses identified Staphylococcus aureus, corroborating the infectious profile of hyper-IgE. The patient's IgE levels exceeded 2000 U/mL, and pulmonary hyperlucency was confirmed by tomography. Treatment included antibiotics and corticosteroids in high doses. Conclusion: This case illustrates the complexity and interconnection between Hyper-IgE Syndrome and Swyer-James-MacLeod Syndrome, highlighting the importance of a comprehensive diagnostic approach and clinical surveillance in children with a history of recurrent infections. Early detection of pulmonary complications and appropriate therapeutic interventions are crucial to minimize long-term impacts on respiratory health and quality of life. This study contributes to the understanding of the interactions between these rare syndromes and reinforces the need for more research to explore their associations.