1 - Department of Neuroradiology, Centro Hospitalar Universitário de Lisboa Central, E.P.E., Lisbon, Portugal
2 - Department of Pediatrics, Centro Hospitalar Universitário de Lisboa Central, E.P.E., Lisbon, Portugal
- XVII Congresso da SPNR, 25 e 26 de Novembro de 2022, Lisboa
Introduction: Primary immunodeficiency disorders (PIDs), also referred to as inborn errors of immunity, are a heterogeneous group of more than 480 sporadic or inherited conditions caused by damaging germline variants in genes related to immune system development and function. Although individually rare, their prevalence as a group is estimated to range between 1/1,000 and 1/5,000. Based on shared pathogenesis and/or clinical phenotypes, PIDs are classified into ten categories according to the 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. Central nervous system involvement may be primary, as a core feature in certain syndromes, or secondary due to infections or immune dysregulation (neoplastic, inflammatory or autoimmune). The broad clinical spectrum of PIDs often poses a diagnostic challenge at presentation, and imaging plays an important role in the differential diagnosis and in evaluating the full extent of its primary and secondary manifestations.
Methods & Results: A retrospective analysis of pediatric patients diagnosed or followed-up with PIDs and central nervous system involvement in Hospital Dona Estefânia, Portugal, was conducted. Clinical and imaging findings of the selected cases were discussed. We provide a pictorial review of the main neurological manifestations in PIDs and accompanying imaging features according to their etiopathogenesis.
Conclusion: Increased susceptibility to infections is the most well-recognized feature of PIDs, and it is the history of atypical/opportunistic, persistent, or recurrent infections that typically suggests the diagnosis. However, physicians and radiologists should be aware of additional potential neurological manifestations of PIDs, which may be grouped as autoimmune, vascular, malignant or neurodegenerative, or part of the disease itself. Recognizing the diverse imaging patterns of these disorders may assist in early diagnosis, and it is of great importance in guiding management approaches and treatment to prevent and reduce complications.
Keywords: Primary immunodeficiency disorders; Central nervous system involvement; MRI;