Rosai-Dorfman disease of the central nervous system: A clinical, radiological, and prognostic study of 12 cases.

BACKGROUND

Rosai-Dorfman disease (RDD) is a rare benign non-Langerhans cell histiocytic proliferative disease. RDD with central nervous system (CNS) involvement (CNS-RDD) is extremely rare. Its etiology is unclear, and there are no consensus recommendations for its treatment. More studies are needed to elucidate the clinical and radiological manifestations and prognosis of CNS-RDD.

METHODS

From January 2012 to June 2022, 12 patients with CNS-RDD (intracranial or spinal) were retrospectively evaluated, including collecting clinical data, imaging data, and pathological findings; summarizing imaging characteristics; and conducting follow-up studies on CND-RDD patient treatment and prognosis.

RESULTS

Twelve CNS-RDD patients (nine male and three female patients, aged 12-67 years) were enrolled in this study. Nine patients represented convex and/or skull base RDD (eight with edema, six with lobulation and/or pseudopodium sign, four with multiple intracranial lesions), two patients had parenchymal RDD, and one patient had spinal cord subdural lesions. Symptoms of patients would vary according to the locations of the lesion, including but not limited to headaches, dizziness, seizures, cranial nerve dysfunction, and visual impairment. The immunohistochemistry of RDD showed positive expression of S100 and CD68 but not CD1a. Total resection ( = 7), subtotal resection ( = 3), partial resection ( = 1), and stereotaxic biopsy ( = 1) were achieved, respectively. A combination of chemotherapy plus steroid therapy was performed on two patients (relapsing case and residual lesion) and showed a remarkable effect.

CONCLUSION

CNS-RDD, as a rare disease, presents a significant diagnostic challenge for clinicians. Solitary CNS-RDD are easily misdiagnosed as meningioma. However, when the MRI imaging of the disease represents dura-based masses with significant edema, homogeneous enhancement, lobulation, and/or pseudopodium sign, we should consider it might be the CNS-RDD. Surgery is an important and effective therapy for CNS-RDD. Steroids and chemotherapy are safe and effective for the postoperative treatment of relapsing cases or residual lesions.