Primary Rosai Dorman Disease of the CNS

Posted by Dr.Purav Patel Dr.Purav Patel
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Rosai-Dorfman disease(RDD), also known as Sinus histiocytosis with massive lymphadenopathy (SHML) is an idiopathic, non-neoplastic, lymphoproliferative disorder, usually presenting with bilateral painless cervical lymphadenopathy. Primary RDD of the CNS is uncommon. Only 34 cases with primary CNS RDD have been reported. A review of 10 cases of RDD, we have encountered over the last four years.


Profiles of the patients with RDD:

18yrs/ male

Presentation:
Spastic quadriparesis with Lt. hand paresthesia.

CT/MRI:
C2/3 extradural enhancing mass, compressing the spinal cord on the right side. Small enhancing lesion at the level of Lt. Meckel's cave.

Treatment:
Near total excision of extradural cervical lesion

Histology and Immunohistochemistry:
Fibrovascular tissue dense aggregates, and diffuse infiltrate of lymphocytes and mature plasma cells. Focal area of numerous histiocytic cells with abundant cytoplasm showing emperipolesis. Foreign body giant cells are present. Immunostain positive for S100 (4+), and CD68(4+).

Follow up:
10 mths; improving quadriparesis and numbness of hands.
23yrs/ male

Presentation:
Lt. high parietal scalp swelling & headache.

CT/MRI:
Lt. high parietal bony swelling with intracranial extension.

Treatment:
Excision along with involved bone.

Histology and Immunohistochemistry:
Thick flattened collagenous fibrous connective tissue with dense infiltrate of clusters of large cells with vesicular nuclei. Emperipolesis within histiocytes seen. Immunostain positive for S100 (4+), and CD68(4+).

Follow up:
7 mths; asymptomatic
31/ female

Presentation:
Rt.upper limb focal seizures & headache.

CT/MRI:
Lt.parietal convexity, enhancing hyperdense lesion with erosion of bone.

Treatment:
Total excision

Histology and Immunohistochemistry:
Thick flattened collagenous fibrous connective tissue with lymphocytes, neutrophils, and histiocytes. Large histiocytes stain strongly positive with S100 (4+).

Follow up:
3 mths; asymptomatic.
37yrs/M
Presentation
Gen.seizures and bitemporal headache

CT/MRI
Rt. occipital enhancing hyperdense lesion without edema.

Treatment
Partial excision

Histology and Immunohistochemistry
Several foci of pale macrophages, lymphocytes, plasma cells. some larger ganglion like cells with eosinophilic cytoplasm shows phagocytosed nuclear debris and lymphocytes. Fibrous bands present.  Immunostain positive for S100 (4+).

Follow up:
6 yrs; occasional seizures; no increase in residual lesion.
37yrs/m

Presentation
Rt.sensory seizures and hemiparesis; vomiting; Lt. fundus pap.

CT/MRI
Lt.parietal convexity lesion homogenous enhancing hyperdense lesion with edema.

Treatment
Total excision

Histology and Immunohistochemistry
Thickened fibrous connective tissue infiltrated with numerous plasma cells, some lymphocytes, neutrophils, and histiocytes. Scattered giant cells with vesicular nuceli, and abundant cytoplasm present. Evidence of recent and old hemorrhage present. Immunostain positive for S100 (4+).

Follow up:
6 yrs; asymptomatic
39rs/m

Presentation:
Gen.seizures.

CT/MRI:
Lt.frontal convexity lesion
homogenous enhancing hyperdense lesion with edema.

Treatment:
Total excision with involved dura & bone

Histology and Immunohistochemistry:
Sheets of histiocytes, plasma cells and lymphocytes present with characteristic emeripolesis within histiocytes. Immunostain positive for S100 (4+), and  CD68 (4+).

Follow up:
1yr; asymptomatic.
50/male

Presentation:
Spastic hemiparesis & minimal dysphasia.

CT/MRI:
Multiple iso/hyperdense, intrparenchymal enhancing lesions.

Treatment:
Biopsy of the lesion

Histology and Immunohistochemistry:
Foci of pale macrophages, lymphocytes, plasma cells with lymphocytes. Emeripolesis within histiocyte with postive stain for S100 (4+), and CD68 (4+).

Follow up:
Expired 10 days after surgery.
51/ female

Presentation:
Headache & Rt.focal seizures.

CT/MRI:
Lt.frontal convexity, enhancing isodense lesion with erosion of bone.

Treatment:
Total excision

Histology and Immunohistochemistry:
Fibrovascular tissue with dense aggregates and diffuse infiltrate of lymphocytes and mature plasma cells. Numerous histiocytic cells with abundant cytoplasm positive for S100 (4+), and CD68 (4+).

Follow up:
5 yrs; asymptomatic.
56/ male

Presentation:
Lt.hand focal seizures with transient weakness;bifrontal headache.

CT/MRI:
Well defined Rt.parietal  parasagitta enhancing hyperdense lesion with edema.

Treatment:
Total excision with involved dura & bone

Histology and Immunohistochemistry:
Thick flattened collagenized fibrous connective tissue with dense infiltrate of clusters of large cells with vesicular nuclei, prominent nucleoli, and abundant pale eosionphilic cytoplasm. Large histiocytes stain strongly positive with S100 (4+), but not with NSE or GFAP.

Follow up:
4 yrs; asymptomatic.
60/ female

Presentation:
Lt. focal seizures; Rt.fundus pap.

CT/MRI:
Rt.parietal convexity, enhancing hyperdense lesion with minimal edema.

Treatment:
Total excision with involved dura.

Histology and Immunohistochemistry:
Fibrocollagenous tissue containing a dense infiltrate composed of mature lymphocytes, numerous plasma cells, and histiocytes. Many   histiocytes have vesicular nuclei, and evidence of emperiopolesis. Few lymphoid follicles seen.

Follow up:
8yrs; asymptomatic.


 

Imaging
Imaging reveals dural-based, contrast-enhancing masses that often elicit vasogenic edema in the underlying brain. Clinically & radio logically they simulate a meningioma. They can be misdiagnosed as a nonspecific inflammatory process.


Review of Literature

Initially described in 1969 by Rosai and Dorfman as a triad of    
Massive cervical lymphadenopathy,
Expanded lymph node sinuses, and
Histiocytes showing emperipolesis.
                                             
The most common sites are the para nasal sinuses, orbit, spine, skull base, skin, and the upper respiratory tract. The mean age of onset with nodal disease is 20.6 years with a male preponderance.

22% of patients with systemic RDD had involvement of central nervous system. Intracranial involvement is twice as common as spinal involvement.

RDD, confined to the CNS, most commonly involves patients between 20 and 40 years of age, and over 90% cases involve the leptomeninges.

Review of the reported intracranial cases revealed that 70% had no lymphadenopathy, and 52% of them had no associated systemic disease. An intracranial mass may be the only lesion found.
Hence, the phrase “histiocytosis with lymphadenopathy” may be inappropriate.

Surgical excision gives a good result (no recurrence or growth being reported).
The role of radiotherapy & chemotherapy including steroid is controversial.
 

Histological and immunohistochemical confirmation is essential for a definitive diagnosis.
Differential diagnosis include,
Meningioma, Histiocytosis X (i.e. eosinophilic granuloma), Lymphoproliferative disorders (show erythryophagocytosis & frank malignant cytological features), and Plasma cell granuloma & Infectious disease (neither exhibits emperipolesis nor S-100 protein positivity)

The number of cases, which were diagnosed earlier as 'non-specific granulomas' in the past could very well have been cases of RDD. With increasing use of immunohistochemistry, more and more cases are being diagnosed these days. The CNS RDD may not be as rare as it has been suggested.

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Re: Primary Rosai Dorman Disease of the CNS

You may visit Histiocytosis association for more on RDD