Rosai-Dorfman Disease: A Less Common Cause of Leptomeningeal and Nerve Root Enhancement

Petraglia, Adam F; Davick, Jonathan J.; Mandell, James W.; Lapides, David A.

doi:10.1177/1941874420929187

Cited by 3 publications

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“…Involvement of the intramedullary spinal cord, cavernous sinus, and retroocular region of the orbit is infrequent. No neurodegenerative pattern has been described in patients with RDD, unlike LCH and ECD [ 11 – 14 ]. Histologically, the lesions consist of numerous characteristic large histiocytes enmeshed in a variably cellular mixed inflammatory infiltrate composed of plasma cells often containing Russell bodies, lymphocytes, neutrophils, foamy macrophages, and rare eosinophils.…”

Section: Discussionmentioning

confidence: 99%

Histiocytic Disorder Mimicking a Brain Tumor: A Report of 2 Rare Cases

et al. 2022

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Case series Patients: Male, 65-year-old • Female, 61-year-old Final Diagnosis: Langerhans cell histiocytosis • Rosai-Dorfman disease Symptoms: The patient with LHD presented with increasing memory loss, confusion, and depression • the patient with RDD presented with dizziness and confusion for three weeks and headaches for one day Medication: — Clinical Procedure: — Specialty: Pathology Objective: Rare disease Background: Histiocytic disorders, a group of disorders with heterogeneous pathogenesis, morphology, and clinical presentation, include Rosai-Dorfman disease, Langerhans cell histiocytosis, and Erdheim-Chester disease. They can mimic primary or metastatic tumors, both clinically and radiologically, when involving the brain. Therefore, it is crucial to present and discuss cases of histiocytic disorder involving the central nervous system (CNS) to provide new information on disease presentation and diagnosis more. In this paper, we present 2 cases of histiocytic lesions involving the brain and mimicking primary brain tumors. Case Report: Case 1: A 65-year-old man presented with increasing memory loss, confusion, and depression. CT scans showed an isolated 2.9×2.0×0.6 cm intracranial hypothalamic lesion. Case 2: A 61-year-old woman presented with dizziness and confusion for 3 weeks and headaches for 1 day. MRI showed a single 5.0×4.0×3.3 cm extra-axial, dural-based, avidly enhancing, well-defined lesion along the left parietal convexity causing mass effect upon the underlying brain parenchyma, left atrial effacement, and minimal vasogenic edema. Conclusions: Histiocytic disorders are relatively rare in the CNS compared with other locations and mimic more common entities in the brain, such as glioma or metastatic tumors. Despite its rarity, one should remain aware of the condition and consider it in the differential diagnosis. This article provides a brief review and adds pivotal data to the literature.

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Section: Discussionmentioning

confidence: 99%

Histiocytic Disorder Mimicking a Brain Tumor: A Report of 2 Rare Cases

et al. 2022

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“…Optic nerve involvement was evident on MRI of the orbits, but two optic nerve sheath biopsies failed to establish a tissue diagnosis; therefore biopsy of the evolving cerebellar lesion was ultimately required to diagnose the H3K27M-mutant glioma. The differential diagnosis of leptomeningeal contrast enhancement is broad, including infectious etiologies such as human T-lymphotropic virus infection, inflammatory conditions such as neurosarcoidosis, and leptomeningeal metastasis from systemic malignancy [25][26][27][28][29]. In this case, the enhancement pattern and elevated CSF angiotensinconverting enzyme level initially led to consideration of neurosarcoidosis, but low-level elevation is nonspecific and should be interpreted with caution [30,31].…”

Section: Discussionmentioning

confidence: 99%

Histone-mutant glioma presenting as diffuse leptomeningeal disease

et al. 2021

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Glioblastoma multiforme is the most common malignant primary brain tumor in adults. Histone H3 mutations have been identified in pediatric and adult gliomas, with H3K27M mutations typically associated with a posterior fossa midline tumor location and poor prognosis. Leptomeningeal disease is a known complication of histone-mutant glioma, but uncommon at the time of initial diagnosis. We describe a case of glioblastoma with H3K27M mutation that initially presented with progressive vision loss due to diffuse leptomeningeal disease in the absence of a mass lesion other than a small cerebellar area of enhancement and with cerebrospinal fluid cytology negative for malignant cells on two occasions, highlighting the importance of including primary CNS malignancies in the differential of diffuse radiographic leptomeningeal enhancement.

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Leptomeningeal Enhancement in Multiple Sclerosis and Other Neurological Diseases: A Systematic Review and Meta-Analysis

Ineichen

Tsagkas

Absinta

et al. 2021

Preprint

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BackgroundThe lack of systematic evidence on leptomeningeal enhancement (LME) on MRI in neurological diseases, including multiple sclerosis (MS), hampers its interpretation in clinical routine and research settings.PurposeTo perform a systematic review and meta-analysis of MRI LME in MS and other neurological diseases.Materials and MethodsIn a comprehensive literature search in Medline, Scopus, and Embase, out of 2292 publications, 459 records assessing LME in neurological diseases were eligible for qualitative synthesis. Of these, 135 were included in a random-effects model meta-analysis with subgroup analyses for MS.ResultsOf eligible publications, 161 investigated LME in neoplastic neurological (n=2392), 91 in neuroinfectious (n=1890), and 75 in primary neuroinflammatory diseases (n=4038). The LME-proportions for these disease classes were 0.47 [95%-CI: 0.37–0.57], 0.59 [95%-CI: 0.47–0.69], and 0.26 [95%-CI: 0.20–0.35], respectively. In a subgroup analysis comprising 1605 MS cases, LME proportion was 0.30 [95%-CI 0.21–0.42] with lower proportions in relapsing-remitting (0.19 [95%-CI 0.13–0.27]) compared to progressive MS (0.39 [95%-CI 0.30–0.49], p=0.002) and higher proportions in studies imaging at 7T (0.79 [95%-CI 0.64–0.89]) compared to lower field strengths (0.21 [95%-CI 0.15–0.29], p<0.001). LME in MS was associated with longer disease duration (mean difference 2.2 years [95%-CI 0.2–4.2], p=0.03), higher Expanded Disability Status Scale (mean difference 0.6 points [95%-CI 0.2–1.0], p=0.006), higher T1 (mean difference 1.6ml [95%-CI 0.1–3.0], p=0.04) and T2 lesion load (mean difference 5.9ml [95%-CI 3.2–8.6], p<0.001), and lower cortical volume (mean difference −21.3ml [95%-CI −34.7–-7.9], p=0.002).ConclusionsOur study provides high-grade evidence for the substantial presence of LME in MS and a comprehensive panel of other neurological diseases. Our data could facilitate differential diagnosis of LME in clinical settings. Additionally, our meta-analysis corroborates that LME is associated with key clinical and imaging features of MS.PROSPERO No: CRD42021235026.Summary statementOur systematic review and meta-analysis synthesize leptomeningeal enhancement proportions across a comprehensive panel of neurological diseases, including multiple sclerosis, and assesses its prognostic value in multiple sclerosis.Summary dataLeptomeningeal enhancement (LME) is a nonspecific imaging feature present across many neurological disorders, including neoplasm, infection, and primary neuroinflammation.The presence of LME is associated with worse clinical and imaging outcomes in multiple sclerosis, justifying its ascertainment in clinical practice.Neuroinflammatory animal models can be used to further investigate the pathophysiology of LME, including its pathological tissue signature and/or its association with cortical pathology.

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Rosai-Dorfman Disease: A Less Common Cause of Leptomeningeal and Nerve Root Enhancement

Cited by 3 publications

References 10 publications

Histiocytic Disorder Mimicking a Brain Tumor: A Report of 2 Rare Cases

Histiocytic Disorder Mimicking a Brain Tumor: A Report of 2 Rare Cases

Histone-mutant glioma presenting as diffuse leptomeningeal disease

Leptomeningeal Enhancement in Multiple Sclerosis and Other Neurological Diseases: A Systematic Review and Meta-Analysis

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