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Rosai-Dorfman disease involving the central nervous system: seven cases from one institute
Yongji Tian1, Junmei Wang, Mingtao Li
1Department of Neurosurgery, Beijing TianTanHospital, Capital Medical University, Beijing, People's Republic of China.
Background:
Rosai-Dorfman disease (RDD) is a rare, idiopathic, non-neoplastic histioproliferative disease. Central nervous system (CNS) manifestations are extremely rare. Its low incidence and unknown etiology restrict early diagnosis and optimal therapy.
Methods:
In the 1995-2013 period, seven CNS-RDD patients with intracranial and/or spinal lesions were retrospectively analyzed, including the clinical data, laboratory and imaging results, treatment applied and outcome. All seven case samples were screened for the SLC29A3 gene mutation, and the literature was reviewed.
Results:
Seven RDD patients (6 male/1 female, aged between 7 and 68) with CNS manifestations are reported. Five of the seven patients (71.4 %) had intracranial lesions (1 with skull erosion and 1 with multiple lesions mimicking meningiomas), and two (28.6 %) had spinal subdural lesions. The patients' symptoms included headaches, seizures, visual loss, epileptoid convulsions in the lower legs, fever, spastic paraparesis and paraplegia. An elevated erythrocyte sedimentation rate (ESR) was detected in five of the seven cases. The diagnosis was confirmed by immunohistochemical staining revealing that the characteristic histiocytes were positive for the S100 protein and CD68 and negative for CD1a. All patients were operated on: three recovered completely, two were partially rehabilitated, and two died. No SLC29A3 gene mutations were found in any of the seven samples.
Conclusion:
This short series suggests the following: (1) RDD should be included in the differential diagnosis of lesions mimicking intracranial/spinal meningiomas or inflammatory lesions, especially in children; (2) the definitive diagnosis is based on histopathology and immunocytochemistry; (3) surgical resection seems to be the most effective therapy; (4) the exact etiology and adjuvant therapy for relapsing/incompletely resected lesions remain to be established.
Insights
Rosai-Dorfman disease (RDD) with central nervous system (CNS) involvement is rare. Surgical resection is the most effective treatment, though etiology and adjuvant therapies require further study.
Area of Science:
- Neurology
- Oncology
- Pathology
Background:
- Rosai-Dorfman disease (RDD) is a rare histioproliferative disorder.
- Central nervous system (CNS) involvement in RDD is exceptionally uncommon, complicating diagnosis and treatment.
- The etiology of RDD remains largely unknown.
Observation:
- Seven cases of CNS RDD with intracranial and/or spinal lesions were analyzed retrospectively.
- Lesions presented as intracranial masses mimicking meningiomas or spinal subdural abnormalities.
- Symptoms included headaches, seizures, visual loss, and progressive neurological deficits.
Findings:
- Histopathology confirmed RDD with characteristic S100 and CD68 positive histiocytes.
- Elevated erythrocyte sedimentation rate (ESR) was noted in most patients.
- No SLC29A3 gene mutations were identified in the affected individuals.
Implications:
- RDD should be considered in the differential diagnosis of intracranial and spinal lesions, particularly in pediatric cases.
- Histopathology and immunocytochemistry are crucial for definitive diagnosis.
- Surgical resection appears to be the most effective therapeutic approach for CNS RDD.
