Rosai-Dorfman disease case reports
A case of deadly and glucocorticoid-resistant neurologic RDD and explore its possible pathogenic mechanisms via single-cell RNA sequencing. Huang et al. identified two distinct but evolutionarily related histiocyte subpopulations (the C1Q+ and SPP1+ histiocytes) that accumulated in the biopsy sample. The expression of genes in the KRAS signaling pathway was upregulated, indicating gain-of-function of KRAS mutations. The C1Q+ and SPP1+ histiocytes were highly differentiated and arrested in the G1 phase, excluding the idea that RDD is a lympho-histio-proliferative disorder. Second, although C1Q+ histiocytes were the primary RDD cell type, SPP1+ histiocytes highly expressed several severe inflammation-related and invasive factors, such as WNT5A, IL-6, and MMP12, suggesting that SPP1+ histiocytes plays a central role in driving the progression of this disease. Third, oligodendrocytes were found to be the prominent cell type that initiates RDD via MIF and may resist glucocorticoid treatment via the MDK and PTN signaling pathways. They report a rare presentation of neurologic RDD and provided new insight into the pathogenic mechanisms of progressive neurologic RDD. This study will also offer evidence for developing precision therapies targeting this complex disease 1)
2021
Rosai-Dorfman disease in a 30-year-old man presenting as an isolated mass arising from the right cerebellar peduncle and protruding into the fourth ventricle. Friconnet et al. provided the results of the MRI examination with a special focus on advanced MRI features. As the diagnosis relies on pathological examination, they also detailed the results of the analysis that followed the surgical resection of the mass including the immunohistochemical profile. This report highlights the necessity to consider Rosai-Dorfman disease as a potential posterior fossa tumor differential diagnosis and/or intraventricular tumor 2).
2020
Isolated Intracranial Rosai-Dorfman Disease: A Case Report and Review of the Literature 3).
2019
A 32-year-old male patient with hepatitis B virus infection. He suffered from low back pain with lower limb weakness after being hit by a metal pipe. Laminectomy of T11-12 was performed to decompress the spinal cord. The final pathological results demonstrated chronic inflammation. After surgery, the lower limbs improved and the patient recovered quite well. However, he returned 3 years later with the same complaints and was diagnosed with RDD. Durectomy was performed and repaired with an artificial dura. Thalidomide therapy was initiated. Currently, 9 years later, the patient has not experienced recurrence, nor any form of neurological deficit.
RDD is a rare disease and can be misdiagnosed easily. Although it may resolve spontaneously, recurrence is possible. Hence, extensive follow-up is necessary. Surgery remained the first choice of surgery, however, when encountered recurrent or non-resectable RDD, adjuvant therapy such as corticosteroids, Thalidomide, radiotherapy could help. In this article, we shared our experience using Thalidomide in treating non-resectable RDD 4).
2018
Nanda et al., presented the case of a 48-yr-old Caucasian male presenting with progressively worsening headaches, giddiness, hearing difficulty, and diplopia. Magnetic resonance imaging of the brain revealed T1-weighted isointense, T2-weighted hypointense, and contrast-enhancing dural-based lesion in the left cerebellopontine angle. The patient underwent maximally safe resection of the lesion through the retromastoid approach with careful preservation of the lower cranial nerve complex. The intraoperative findings of a variegated and lobulated mass adherent to the skull base, the surgical strategy of safe resection, and eventual good outcome in this patient are depicted in this 3-dimensional video presentation. The majority of patients with skull base Rosai-Dorfman disease reported in literature have had stable or regression of disease (78%) after initial conservative surgical treatment and hence aggressive surgical resection is of unproven efficacy.3 The patient has consented to depiction of his surgical video and intraoperative images in this video manuscript 5).
2000
A 67-year-old woman with a 5-month history of cerebellar ataxia. Her medical history was unremarkable. The patient was alert and cooperative. No cranial nerve deficits were evident; Romberg positivity to the left side was recorded. No cutaneous abnormalities, lymphadenopathy, or hepatosplenomegaly were revealed by physical examination. Routine hematological and biochemical studies were normal except for the erythrocyte sedimentation rate, which was elevated. Radiologically, the lesion appeared as a well-defined and avascular mass in the right cerebellar lobe. Meningioma was considered the most likely diagnosis.
The patient underwent a suboccipital craniotomy with complete excision of the lesion. Microscopic examination of the operative specimen revealed the presence of a mixed cellular population with predominant mature histiocytes. A peculiar feature was the presence of lymphocytes and monocytes within the cytoplasm of histiocytes (emperipolesis). Immunohistochemical study of the histiocytes revealed strong positivity for S-100, CD-68 antigen, and vimentin.
Involvement of the central nervous system in RDD appears to have a benign prognosis, especially in the absence of nodal diseases. Surgery is essential for diagnosis, and, when total removal is achieved, the outcome is generally good without risk of recurrence 6).
A 2-year-10-month-old girl presented with high fever and vomiting. One year ago, she had a period of muscular weakness in both legs that recovered completely. MRI of the brain revealed an axial enhancing lesion with ventricular spreading mainly to the left occipital horn and bilateral frontal periventricular infiltration. After steroid therapy, all the symptoms recovered. Partial removal of the occipital intraventricular lesion was performed and the diagnosis of Rosai-Dorfman disease was established and confirmed by the reference center. At the latest follow-up (16 months), the girl is without any neurological symptoms and without any treatment 7).