Rosai-Dorfman disease of the central nervous system: report of 6 cases and review of the literature

Abstract

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), is an uncommon benign idiopathic lymphoproliferative disorder. The histologic hallmark of RDD is the finding of emperipolesis displayed by lesional histiocytes. While RDD most commonly affects lymph nodes, extranodal involvement of multiple organs has been reported, including the central nervous system (CNS). However, CNS involvement in RDD is rare and is not well characterized. As a result, therapeutic approaches to CNS involvement in RDD are not well established. Herein we report 6 cases of RDD with isolated CNS involvement and review the literature on RDD with CNS involvement. One of the presented cases exhibited intramedullary involvement of the spinal cord--a very rare form of RDD with CNS involvement.

FIGURE 1

Neuroimaging findings in Cases 1 and 2. A, Sagittal postcontrast T₁-weighted MRI showing a lobulated enhancing extraaxial mass (arrow) in the retroclival region with secondary mass effect over the ventral aspect of the pons and medulla oblongata in Case 1. B, Axial postcontrast T₁-weighted MRI showing the same lobulated mass. C, Sagittal postcontrast T₁-weighted MRI demonstrates an extraaxial homogeneously enhancing mass in the posterior fossa extending inferiorly to the foramen magnum and into the cervical canal with associated mass effect on the dorsal aspect of the cervicomedullary junction and cervical spinal cord in Case 1. D, Axial postcontrast T₁-weighted MRI showing an elongated homogeneous enhancing extraaxial mass (arrow) in the left cerebellopontine angle with mild mass effect over the left aspect of the pons and anterior left cerebellum in Case 2. E, Axial postcontrast T₁-weighted MRI demonstrating nodular enhancement along the dura and tentorium (arrows) in Case 2.

FIGURE 2

Pathologic findings in RDD involving the CNS. All cases in this series had similar morphologic features, and representative images are shown. A, B, and C, Biopsies contained an abnormal vaguely nodular polymorphous lymphohistiocytic infiltrate (hematoxylin and eosin; 4× magnification in A) composed of abundant loosely cohesive large histiocytes admixed with numerous small mature lymphocytes and plasma cells (hematoxylin and eosin; 10× magnification in B and C). D and E, Within the aggregates of histiocytes, the diagnostic feature of emperipolesis was identified in all cases (hematoxylin and eosin; 50× magnification). F, The cells are positive for S-100 protein by immunohistochemistry (hematoxylin and eosin; 20× magnification).

FIGURE 3

Neuroimaging findings in Cases 3 and 4. A, Sagittal postcontrast T₂-weighted MRI showing an abnormal hyperintense intramedullary lesion throughout the cervical cord at C5-C6 (arrow) in Case 3. B, Axial postcontrast T₁-weighted MRI demonstrating an extraaxial homogeneously enhancing mass (arrow) in the right prepontine cistern with mass effect on the ventral aspect of the pons in Case 3. C and D, Sagittal postcontrast T₁-weighted MRI demonstrates multiple areas of nodular enhancement along the ventral aspect of the cervicomedullary junction consistent with dura-based lesion in Case 4.