Rosai-Dorfman Disease: A Case Series Illustrating CNS Involvement Characterized by Distinct Clinical Manifestations
Sean Pennetti1, Robert Fulbright2, Joachim Baehring1
1Neuro Oncology, 2Radiology, Yale University School of Medicine
Objective:
This case series presents the neurological complications of Rosai-Dorfman disease in three patients, each with distinct clinical presentations that illustrate a wide range of potential effects of the disease. The objective of this series is to highlight the differential manifestations of the disease including immune-related and widely disseminated disease.
Background:
Rosai-Dorfman disease (RDD) is a rare non-Langerhans histiocytosis, traditionally considered a benign condition primarily affecting the cervical lymph nodes. A minority of patients exhibit extranodal disease, and an even smaller proportion show evidence of central nervous system (CNS) involvement. CNS disease generally presents as a dural-based mass. RDD is now recognized as a diverse disease with multiple clinical subtypes and potential widespread effects, including CNS dissemination and immune-related or neoplasia-associated subtypes.
Design/Methods:
We reviewed the quality control database of the Brain Tumor Center at our institution for patients with RDD. Only those with primary neurological manifestations and histopathologic confirmation were included. We recorded demographics, diagnostic data (including histopathology and neuroimaging), treatment, and outcomes.
Results:
Three cases were identified. The first patient had cervical lymphadenopathy and a right submandibular mass, along with a homogeneously enhancing extra-axial lesion initially suspected to be a meningioma. The second patient presented with ischemic infarcts and a right internal carotid artery thrombus, likely related to antiphospholipid syndrome, which may correlate with immune-related RDD and possible autoimmune lymphoproliferative syndrome. The third patient exhibited widely disseminated disease, including multiple extra-axial masses, calvarial, clival, and spinal lesions.
Conclusions:
This series illustrates the diverse neurological implications of Rosai-Dorfman disease, emphasizing distinct clinical presentations and their sequelae. It underscores the importance of recognizing immune manifestations and the effects of disseminated disease. Overall, RDD remains an understudied field that warrants further research.
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