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Bekkour I, Courtin E, Dulau-Metras C, Duffau P, Kremer L, Mathey G. Defining the course of neurosarcoidosis according to presentation at onset and disease modifying treatment: a cohort study of 84 patients. Ther Adv Neurol Disord 2023; 16:17562864231205954. [PMID: 38143513 PMCID: PMC10748905 DOI: 10.1177/17562864231205954] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/13/2023] [Accepted: 09/15/2023] [Indexed: 12/26/2023] Open
Abstract
Background Neurosarcoidosis is a rare manifestation of sarcoidosis with heterogeneous presentations. Patient management is challenging due to the current lack of knowledge about the long-term disease course. Objective To identify specific disease courses of neurosarcoidosis according to the clinical and paraclinical presentations at onset. Methods We conducted an observational multicenter cohort study by retrospectively collecting data from the medical records of 84 patients diagnosed with definite, probable, or possible neurosarcoidosis in three tertiary referral centers in France (Nancy, Strasbourg, and Bordeaux). We collected demographic characteristics, clinical and paraclinical data at the beginning of patient management, and during follow-up under the different treatment lines. Two expert neurologists determined disease course profiles. Results The mean follow-up was 6.6 years. Almost every patient (96.4%) received steroids at some point of their follow-up. Tumor Necrosis Factor-alpha blockers were given in 10.7% as first-line treatment and in 33.3% during follow-up. Every patient presented with a relapsing disease, often monophasic (75%) and sometimes polyphasic with the recurrence of identical manifestations (11.9%). Patients developing new neurological symptoms during follow-up were a minority (13.1%). No patients exhibited a progressive course. Patients with isolated cranial nerves injury or aseptic meningitis always exhibited a monophasic course, and 62.5-75% of them had a full recovery after first-line treatments. This proportion was 15.6% in other forms of the disease. Those with peripheral presentations were more likely to present a polyphasic course than patients with other forms of neurosarcoidosis. Spinal cord presentations were monophasic, but resulted in sequelae and exhibited poor response to first-line treatments despite frequent use of TNF-alpha blockers. Conclusion Identification of these disease course profiles, based on the initial clinical and paraclinical presentation, could guide the clinician to select the optimal therapeutic approach and follow-up modalities for their patients with neurosarcoidosis.
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Affiliation(s)
- Inès Bekkour
- Department of Neurology, Nancy University Hospital, Nancy, France
| | - Edouard Courtin
- Department of Neurology, Bordeaux University Hospital, Bordeaux, France
| | | | - Pierre Duffau
- Department of Internal Medicine and Clinical Immunology, Bordeaux University Hospital, Bordeaux, France
- CNRS, ImmunoConcEpT, UMR 5164, University of Bordeaux, Bordeaux, France
| | - Laurent Kremer
- Department of Neurology, Strasbourg University Hospital, Strasbourg, France
- INSERM U1119, Strasbourg, France
| | - Guillaume Mathey
- Service de Neurologie, Hopital Central, CHRU de Nancy, 1 Avenue du Maréchal de Lattre de Tassigny, Nancy 54000, France
- Department of Neurology, Nancy University Hospital, Nancy, France
- CIC-Epidémiologie Clinique, Nancy University Hospital, INSERM, Université de Lorraine, Nancy, France
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Takeshima S, Furuya T, Yamamoto M, Noma M, Kawate N. Planning and effectiveness of intensive rehabilitation as a treatment for a patient with neurosarcoidosis: A case report. Medicine (Baltimore) 2023; 102:e34519. [PMID: 37565862 PMCID: PMC10419337 DOI: 10.1097/md.0000000000034519] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/12/2023] [Accepted: 07/06/2023] [Indexed: 08/12/2023] Open
Abstract
INTRODUCTION Neurosarcoidosis tends to prolong the duration of treatment and may result in a decline in physical function requiring rehabilitation. Because of a rare disease, the adjustment of oral steroid dosage, which is the cornerstone of treatment, is highly dependent on professional experience in general. Therefore, the number of hospitals that can perform dosage adjustment is very limited, and it is difficult to provide concurrent intense rehabilitation at the same hospital over a long period of time, and there are no reports that mention this. PATIENT CONCERNS A 49-year-old man, who presented with impaired consciousness, dysphagia and right hemiplegia, was diagnosed with neurosarcoidosis based on a previous diagnosis of sarcoidosis, laboratory test results, and clinical symptoms. High-dose oral steroid therapy was initiated and he was transferred to our rehabilitation hospital for progressive disuse approximately 2 months after the disease onset. DIAGNOSES This case was diagnosed as "probable" neurosarcoidosis. INTERVENTIONS The steroid dose was not reduced during rehabilitation treatment in our hospital considering the risk of relapse of the primary disease due to steroid reduction. His training regimen focused on minimum activities of daily living was performed, and its effectiveness was determined during approximately 60 days after the initiation of rehabilitation. OUTCOMES Two months after admission, he was independently eating, transferring, and toileting under supervision. He was discharged home 3 months after admission. LESSONS Intensive rehabilitation can be one of the effective comprehensive treatment strategy for patients with neurosarcoidosis. On the other hand, since there is no consensus treatment method, the duration of rehabilitation and goal setting should be adjusted based on an understanding of the characteristics of the disease and the overall treatment plan.
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Affiliation(s)
- Shinichi Takeshima
- Department of Rehabilitation Medicine, Showa University School of Medicine, Kanagawa, Japan
- Department of Internal medicine, Sakuragaoka Central Hospital, Kanagawa, Japan
| | - Toshiki Furuya
- Center for Rehabilitation, Showa University Fujigaoka Rehabilitation Hospital, Kanagawa, Japan
| | - Mariko Yamamoto
- Center for Rehabilitation, Showa University Fujigaoka Rehabilitation Hospital, Kanagawa, Japan
| | - Marie Noma
- Center for Rehabilitation, Showa University Fujigaoka Rehabilitation Hospital, Kanagawa, Japan
| | - Nobuyuki Kawate
- Department of Rehabilitation Medicine, Showa University School of Medicine, Kanagawa, Japan
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Vialatte de Pémille C, Noël N, Adam C, Labeyrie C, Not A, Beaudonnet G, Echaniz-Laguna A, Adams D, Cauquil C. Red Flags for Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with Sarcoidosis or Connective Tissue Diseases. J Clin Med 2023; 12:jcm12093281. [PMID: 37176720 PMCID: PMC10179067 DOI: 10.3390/jcm12093281] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/02/2023] [Revised: 04/21/2023] [Accepted: 05/02/2023] [Indexed: 05/15/2023] Open
Abstract
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare autoimmune disorder of the peripheral nervous system. Diagnosis relies on clinical and electrophysiological criteria. Various disorders requiring specific treatment regimens may be associated with CIDP, including sarcoidosis (SAR-CIDP) and connective tissue disease (CTD-CIDP). Therefore, it is important to distinguish between CIDP, SAR-CIDP and CTD-CIDP. In this retrospective monocentric study, we analyzed 16 patients with SAR-CIDP and 11 with CTD-CIDP and compared them with a group of 17 patients with idiopathic CIDP. SAR-CIDP patients had a frequently acute or subacute CIDP onset. CTD-CIDPs were mostly Sjögren's syndrome and lupus, and patients had a chronic onset. An older age at onset (64.5 vs. 54 years, p = 0.04), more atypical presentation (19/25 (76%) vs. 6/17 (35%), p = 0.008), acute/subacute onset of symptoms (15/25 (60%) vs. 1/17 (6%), p = 0.0004) and more frequent weight loss (7/16 (44%) vs. 0/17 (0%), p = 0.017) were identified SAR-CIDP and CTD-CIDP groups. Response to intravenous immunoglobulin therapy was lower in the combined SAR-CIDP and CTD-CIDP group (44% versus 82%, p = 0.005). As sarcoidosis and CTDs might be associated with CIDP and require specific management, the "red flags" mentioned above should be kept in mind by clinicians managing patients with CIDP.
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Affiliation(s)
| | - Nicolas Noël
- Internal Medicine Departement, CHU de Bicêtre, 78 Rue du General Leclerc, 94270 Le Kremlin Bicetre, France
- Faculty of Medicine, Paris Saclay University, 63 Rue Gabriel Peri, 94270 Le Kremlin Bicetre, France
| | - Clovis Adam
- Pathology Laboratory, CHU de Bicêtre, 78 Rue du General Leclerc, 94270 Le Kremlin Bicetre, France
| | - Céline Labeyrie
- Neurology Department, AP-HP, CHU de Bicêtre, 78 Rue du General Leclerc, 94270 Le Kremlin Bicetre, France
- French National Reference Center for Rare Neuropathies (NNERF), CHU de Bicêtre, 78 Rue du General Leclerc, 94275 Le Kremlin Bicetre, France
| | - Adeline Not
- Neurology Department, AP-HP, CHU de Bicêtre, 78 Rue du General Leclerc, 94270 Le Kremlin Bicetre, France
- French National Reference Center for Rare Neuropathies (NNERF), CHU de Bicêtre, 78 Rue du General Leclerc, 94275 Le Kremlin Bicetre, France
| | - Guillemette Beaudonnet
- Neurology Department, AP-HP, CHU de Bicêtre, 78 Rue du General Leclerc, 94270 Le Kremlin Bicetre, France
- French National Reference Center for Rare Neuropathies (NNERF), CHU de Bicêtre, 78 Rue du General Leclerc, 94275 Le Kremlin Bicetre, France
- Neurophysiology Department, AP-HP, CHU de Bicêtre, 78 Rue du General Leclerc, 94270 Le Kremlin Bicetre, France
| | - Andoni Echaniz-Laguna
- Neurology Department, AP-HP, CHU de Bicêtre, 78 Rue du General Leclerc, 94270 Le Kremlin Bicetre, France
- Faculty of Medicine, Paris Saclay University, 63 Rue Gabriel Peri, 94270 Le Kremlin Bicetre, France
- French National Reference Center for Rare Neuropathies (NNERF), CHU de Bicêtre, 78 Rue du General Leclerc, 94275 Le Kremlin Bicetre, France
- INSERM U1195, Paris Saclay University, 94276 Le Kremlin Bicetre, France
| | - David Adams
- Neurology Department, AP-HP, CHU de Bicêtre, 78 Rue du General Leclerc, 94270 Le Kremlin Bicetre, France
- Faculty of Medicine, Paris Saclay University, 63 Rue Gabriel Peri, 94270 Le Kremlin Bicetre, France
- French National Reference Center for Rare Neuropathies (NNERF), CHU de Bicêtre, 78 Rue du General Leclerc, 94275 Le Kremlin Bicetre, France
- INSERM U1195, Paris Saclay University, 94276 Le Kremlin Bicetre, France
| | - Cécile Cauquil
- Neurology Department, AP-HP, CHU de Bicêtre, 78 Rue du General Leclerc, 94270 Le Kremlin Bicetre, France
- French National Reference Center for Rare Neuropathies (NNERF), CHU de Bicêtre, 78 Rue du General Leclerc, 94275 Le Kremlin Bicetre, France
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Sambon P, Sellimi A, Kozyreff A, Gheysens O, Pothen L, Yildiz H, van Pesch V. Epidemiology, clinical presentation, treatment, and outcome of neurosarcoidosis: A mono-centric retrospective study and literature review. Front Neurol 2022; 13:970168. [PMID: 36388212 PMCID: PMC9641157 DOI: 10.3389/fneur.2022.970168] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/15/2022] [Accepted: 09/30/2022] [Indexed: 12/02/2022] Open
Abstract
Introduction Neurosarcoidosis is a rare granulomatous disorder, and treatment guidelines are mainly based on retrospective studies. Materials and methods This retrospective study was performed to provide a detailed description of the clinical characteristics and treatment outcomes of patients with neurosarcoidosis followed at Cliniques Universitaires Saint Luc in Belgium. The second objective of our study was to perform a comparative literature review of neurosarcoidosis, with a focus on treatment outcomes with the use of TNF-α antagonist. Results Among 180 patients with sarcoidosis followed in our hospital, 22 patients with neurosarcoidosis were included in the final analysis. Our literature research identified 776 articles of which 35 articles met our inclusion criteria, including 1,793 patients diagnosed with neurosarcoidosis. In our cohort, the majority of patients (86%) were diagnosed with systemic sarcoidosis which was similar to that reported in the literature (83%). Serum CRP and calcemia were elevated only in 33 and 18% of patients, respectively. Serum lysozyme and angiotensin-converting enzyme were elevated in 79 and 16% of patients, respectively. Lumbar puncture and CSF fluid analysis were performed in 15/22 patients and were abnormal in all patients. Brain MRI was performed in 21/22 patients and showed abnormalities in 16 patients consisting of parenchymal lesions in 63%, hypothalamic-pituitary axis lesions in 38%, and meningeal enhancement in 31%. In both cohort patients, methotrexate was the most frequently used treatment (>45% of cases) with a favorable outcome in an average of 50% of patients. A TNF-α antagonist was administered in 9% of patients in our cohort and in 27% of patients in the literature review. The proportion of favorable outcomes in literature research was significantly higher in patients treated with TNF-α antagonists compared to methotrexate (p < 0.0001), mycophenolate mofetil (p < 0.0001), or azathioprine (p < 0.0001). Conclusion The results of our cohort and literature review confirm that neurosarcoidosis occurred most frequently in the context of systemic sarcoidosis. Methotrexate is the most frequent second-line therapy. The effectiveness of therapy with TNF-α antagonists is well-demonstrated and associated with a better outcome. Their earlier use during the disease course among aggressive and/or refractory neurosarcoidosis should be considered.
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Affiliation(s)
- Pauline Sambon
- Department of Internal Medicine and Infectious Diseases, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
| | - Amina Sellimi
- Department of Neurology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
| | - Alexandra Kozyreff
- Department of Ophthalmology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
| | - Olivier Gheysens
- Department of Nuclear Medicine, Cliniques Universitaires Saint-Luc and Institute of Clinical and Experimental Research (IREC), Université Catholique de Louvain, Brussels, Belgium
| | - Lucie Pothen
- Department of Internal Medicine and Infectious Diseases, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
| | - Halil Yildiz
- Department of Internal Medicine and Infectious Diseases, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
| | - Vincent van Pesch
- Department of Neurology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
- *Correspondence: Vincent van Pesch
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Paydar A, Jenner ZB, Simkins TJ, Chang YM, Hacein-Bey L, Ozturk A, Birkeland A, Assadsangabi R, Raslan O, Shadmani G, Apperson M, Ivanovic V. Autoimmune disease of head and neck, imaging, and clinical review. Neuroradiol J 2022; 35:545-562. [PMID: 35603923 PMCID: PMC9513912 DOI: 10.1177/19714009221100983] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/03/2023] Open
Abstract
Autoimmune disease of the head and neck (H&N) could be primary or secondary to systemic diseases, medications, or malignancies. Immune-mediated diseases of the H&N are not common in daily practice of radiologists; the diagnosis is frequently delayed because of the non-specific initial presentation and lack of familiarity with some of the specific imaging and clinical features. In this review, we aim to provide a practical diagnostic approach based on the specific radiological findings for each disease. We hope that our review will help radiologists expand their understanding of the spectrum of the discussed disease entities, help them narrow the differential diagnosis, and avoid unnecessary tissue biopsy when appropriate based on the specific clinical scenarios.
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Affiliation(s)
| | - Zachary B Jenner
- University of California Davis
Medical Center, Sacramento, CA, USA
| | - Tyrell J Simkins
- Department of Neurology, University of California Davis
Medical Center, Sacramento, CA, USA
| | - Yu-Ming Chang
- Department of Radiology, Beth Israel Deaconess Medical
Center, Boston, MA, USA
| | | | - Arzu Ozturk
- Department of Medicine, UC Davis, Sacramento, CA, USA
| | | | - Reza Assadsangabi
- Department of Radiology, University of Southern
California, Los Angeles, CA, USA
| | - Osama Raslan
- Department of Radiology, University of California Davis
Medical Center, Sacramento, CA, USA
| | - Ghazal Shadmani
- School of Medicine in Saint Louis, Washington University, St Louis, MO, USA
| | - Michelle Apperson
- Department of Neurology, University of California Davis
Medical Center, Sacramento, CA, USA
| | - Vladimir Ivanovic
- Department of Radiology, Medical College of
Wisconsin, Milwaukee, WI, USA
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6
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Nwebube CO, Bou GA, Castilho AJ, Hutto SK. Facial nerve palsy in neurosarcoidosis: clinical course, neuroinflammatory accompaniments, ancillary investigations, and response to treatment. J Neurol 2022; 269:5328-5336. [PMID: 35583659 DOI: 10.1007/s00415-022-11189-6] [Citation(s) in RCA: 9] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2022] [Revised: 05/08/2022] [Accepted: 05/10/2022] [Indexed: 12/01/2022]
Abstract
BACKGROUND Facial nerve palsy is a cardinal manifestation of neurosarcoidosis, but dedicated studies of this disease feature have not been conducted. We sought to clarify the impact of facial palsy on the diagnosis of neurosarcoidosis, its subsequent clinicoradiographic evolution, and eventual treatment decisions. METHODS A single-center retrospective analysis of patients with neurosarcoidosis and facial palsy was conducted over the preceding 10 years (01/01/2011-08/12/2021). RESULTS 23/218 (10.6%) patients with neurosarcoidosis developed facial neuropathy. It was the inaugural manifestation of neurosarcoidosis in 17/23 (73.9%) and presented in isolation of other neurologic deficits or extra-facial MRI abnormalities in 12/23 (52.2%). At onset, facial palsy was unilateral in 20/23 (87.0%), and multiple cranial neuropathies were seen in 8/23 (34.8%). Non-facial inflammatory MRI abnormalities were observed in 6/15 (40.0%) patients at onset with leptomeningitis being most common (5/15, 33.3%). 13/23 (56.5%) experienced a second attack of neurosarcoidosis at a median of 8 months, including 3/23 (13.0%) with recurrent facial palsies. In the 12 patients with isolated facial paresis at onset, 4/12 (33.3%) remained free of new deficits or neuroimaging abnormalities by last follow-up. 17/23 (73.9%) eventually required initiation of steroid-sparing immunosuppressants, almost all for development of non-facial disease. The final median House-Brackmann score was 1. CONCLUSION Facial neuropathy occurred less commonly than historically reported, and it often acts as a forerunner to systemic sarcoidosis and more widespread neurologic disease. Recurrent attacks of neurosarcoidosis occur early at high frequency following facial palsy. Recovery of facial nerve function is typically excellent.
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Affiliation(s)
- Chineze O Nwebube
- Department of Neurology, Emory University School of Medicine, 12 Executive Park Drive NE, Atlanta, GA, 30329, USA
| | - Gabriela A Bou
- Department of Neurology, Emory University School of Medicine, 12 Executive Park Drive NE, Atlanta, GA, 30329, USA
| | - Alexander J Castilho
- Division of Neuroradiology, Department of Radiology, Emory University School of Medicine, Atlanta, GA, USA
| | - Spencer K Hutto
- Department of Neurology, Emory University School of Medicine, 12 Executive Park Drive NE, Atlanta, GA, 30329, USA.
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Mathew J, Padiyar S, Doley D, Babu R. An unusual case of vomiting and arthritis: A diagnostic enigma. INDIAN JOURNAL OF RHEUMATOLOGY 2022. [DOI: 10.4103/injr.injr_359_20] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
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Ramos-Casals M, Pérez-Alvarez R, Kostov B, Gómez-de-la-Torre R, Feijoo-Massó C, Chara-Cervantes J, Pinilla B, González-García A, Garcia-Morillo JS, López-Dupla M, De-Escalante B, Rascón J, Perez-Guerrero P, Bonet M, Cruz-Caparrós G, Alguacil A, Callejas JL, Calvo E, Soler C, Robles A, de Miguel-Campo B, Oliva-Nacarino P, Estela-Herrero J, Pallarés L, Brito-Zerón P, Blanco Y. Clinical characterization and outcomes of 85 patients with neurosarcoidosis. Sci Rep 2021; 11:13735. [PMID: 34215779 PMCID: PMC8253777 DOI: 10.1038/s41598-021-92967-6] [Citation(s) in RCA: 17] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/04/2020] [Accepted: 04/26/2021] [Indexed: 11/09/2022] Open
Abstract
To analyze the frequency and clinical phenotype of neurosarcoidosis (NS) in one of the largest nationwide cohorts of patients with sarcoidosis reported from southern Europe. NS was evaluated according to the Diagnostic Criteria for Central Nervous System and Peripheral Nervous System Sarcoidosis recently proposed by Stern et al. Pathologic confirmation of granulomatous disease was used to subclassify NS into definite (confirmation in neurological tissue), probable (confirmation in extraneurological tissue) and possible (no histopathological confirmation of the disease). Of the 1532 patients included in the cohort, 85 (5.5%) fulfilled the Stern criteria for NS (49 women, mean age at diagnosis of NS of 47.6 years, 91% White). These patients developed 103 neurological conditions involving the brain (38%), cranial nerves (36%), the meninges (3%), the spinal cord (10%) and the peripheral nerves (14%); no patient had concomitant central and peripheral nerve involvements. In 59 (69%) patients, neurological involvement preceded or was present at the time of diagnosis of the disease. According to the classification proposed by Stern et al., 11 (13%) were classified as a definite NS, 61 (72%) as a probable NS and the remaining 13 (15%) as a possible NS. In comparison with the systemic phenotype of patients without NS, patients with CNS involvement presented a lower frequency of thoracic involvement (82% vs 93%, q = 0.018), a higher frequency of ocular (27% vs 10%, q < 0.001) and salivary gland (15% vs 4%, q = 0.002) WASOG involvements. In contrast, patients with PNS involvement showed a higher frequency of liver involvement (36% vs 12%, p = 0.02) in comparison with patients without NS. Neurosarcoidosis was identified in 5.5% of patients. CNS involvement prevails significantly over PNS involvement, and both conditions do not overlap in any patient. The systemic phenotype associated to each involvement was clearly differentiated, and can be helpful not only in the early identification of neurological involvement, but also in the systemic evaluation of patients diagnosed with neurosarcoidosis.
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Affiliation(s)
- Manuel Ramos-Casals
- Department of Autoimmune Diseases, ICMiD, Hospital Clínic, Barcelona, Spain.,Department of Medicine, University of Barcelona, Barcelona, Spain
| | | | - Belchin Kostov
- Primary Healthcare Transversal Research Group, IDIBAPS, Primary Care Center Les Corts, CAPSBE, Barcelona, Spain.,Department of Statistics and Operational Research, Universitat Politècnica de Catalunya, Barcelona, Spain
| | | | | | | | - Blanca Pinilla
- Department of Internal Medicine, Hospital Gregorio Marañón, Madrid, Spain
| | | | | | | | | | - Javier Rascón
- Department of Internal Medicine, Hospital Son Espases, Palma de Mallorca, Spain
| | | | - Mariona Bonet
- Department of Internal Medicine, Althaia, Xarxa Assistencial de Manresa, Manresa, Spain
| | - Gracia Cruz-Caparrós
- Department of Internal Medicine, Hospital de Poniente de El Ejido, Almería, Spain
| | - Ana Alguacil
- Department of Internal Medicine, Hospital Virgen de la Salud, Toledo, Spain
| | | | - Eva Calvo
- Department of Internal Medicine, Hospital San Jorge, Huesca, Spain
| | - Cristina Soler
- Department of Internal Medicine, Hospital Santa Caterina, Girona, Spain
| | - Angel Robles
- Department of Internal Medicine, Hospital La Paz, Madrid, Spain
| | | | - Pedro Oliva-Nacarino
- Department of Neurology. Hospital, Universitario Central de Asturias (HUCA), Oviedo, Spain
| | | | - Lucio Pallarés
- Department of Internal Medicine, Hospital Son Espases, Palma de Mallorca, Spain
| | - Pilar Brito-Zerón
- Systemic Autoimmune Diseases Unit, Department of Internal Medicine, Hospital CIMA-Sanitas, Barcelona, Spain.
| | - Yolanda Blanco
- Department of Neurology, Hospital Clínic, Barcelona, Spain
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9
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Goel J, Anadure R, Gupta S, Wilson V, Saxena R, Sahu S, Mutreja D. A Study of the Clinical Profile, Radiologic Features, and Therapeutic Outcomes in Neurosarcoidosis from Two Tertiary Care Centers in Southern India. Neurol India 2021; 68:609-616. [PMID: 32643673 DOI: 10.4103/0028-3886.288976] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
Abstract
Background Sarcoidosis is an inflammatory granulomatous disease affecting multiple organ systems. Neurological manifestations are rare and seen in approximately 5% cases of sarcoidosis. They may commonly precede the diagnosis of sarcoidosis. Since there is paucity of Indian literature on this subject, we decided to review the clinical and radiological profile, laboratory abnormalities, treatment and long-term outcomes in our patients with neurosarcoidosis (NS). Methods The study was done by retrospective review of medical records for all cases diagnosed as NS during the period Jan 2014-Jan 2018. These cases were classified as definite, probable, and possible NS, on the basis of established diagnostic parameters (Zajicek criteria). The follow-up record in these cases ranged from 6 months to 3 years, with special emphasis on monitoring the response to treatment and long-term disability. Results The cases showed varied clinical abnormalities and imaging findings. Cranial neuropathies and myelopathy were the most common clinical presentations. Optic neuritis was most common cranial neuropathy, followed by facial nerve palsy and lower cranial nerve palsies. Most common magnetic resonance imaging findings were T2 hyperintense parenchymal lesions and meningeal enhancement. There was strong correlation between baseline clinico radiological parameters and long-term outcomes, as evidenced by relatively poor prognosis seen in cases with bilateral optic neuritis, myelopathy and imaging evidence of hydrocephalus, or leptomeningitis. Conclusion The diagnosis of NS requires a high degree of suspicion, coupled with exclusion of alternate diagnosis. It commonly precedes the onset of systemic sarcoidosis. Central nervous system involvement in sarcoidosis is associated with poor clinical outcomes.
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Affiliation(s)
- Jitesh Goel
- Department of Neurology, Command Hospital Air Force, Bengaluru, Karnataka, India
| | - Ravi Anadure
- Department of Medicine, Agram Post, Command Hospital Air Force, Bengaluru, Karnataka, India
| | - Salil Gupta
- Department of Neurology, Army Hospital R and R, New Delhi, India
| | - Vinny Wilson
- Department of Neurology, INHS Asvini, Mumbai, India
| | - Rajeev Saxena
- Department of Neurology, Command Hospital Air Force, Bengaluru, Karnataka, India
| | - Samaresh Sahu
- Department of Radiology, Command Hospital Air Force, Bengaluru, Karnataka, India
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Fereos G, Buchanan C, Allen P, Inusa B, Bossley CJ. A mysterious cause of chronic cough. Breathe (Sheff) 2020; 16:200163. [PMID: 33447277 PMCID: PMC7792853 DOI: 10.1183/20734735.0163-2020] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/26/2020] [Accepted: 09/10/2020] [Indexed: 11/13/2022] Open
Abstract
This case alerts professionals to take a broad approach when considering childhood chronic cough in sickle cell disease. Certain respiratory conditions are difficult to recognise in childhood, with many children suffering from delayed diagnosis. https://bit.ly/2GZAgmE.
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Affiliation(s)
- George Fereos
- King's College London, School of Medical Education, London, UK
- King's College Hospital NHS Foundation Trust, London, UK
| | | | - Pamela Allen
- King's College Hospital NHS Foundation Trust, London, UK
| | - Baba Inusa
- Evelina London Children's Hospital, London, UK
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Kidd DP. Neurosarcoidosis: clinical manifestations, investigation and treatment. Pract Neurol 2020; 20:199-212. [PMID: 32424017 DOI: 10.1136/practneurol-2019-002349] [Citation(s) in RCA: 49] [Impact Index Per Article: 9.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/05/2020] [Indexed: 12/13/2022]
Abstract
Sarcoidosis affects the nervous system in 10% of cases. When it does so it can affect any part of the nervous system and with all degrees of severity. It forms part of the differential diagnosis in inflammatory, infective, neoplastic and degenerative neurological diseases and may be very difficult to diagnose without histological confirmation. Recent clinical studies and the increasing availability of new biological treatments allow a much clearer understanding of the disease. This review summarises its clinical features, imaging and laboratory characteristics, treatment and outcome.
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Affiliation(s)
- Desmond P Kidd
- Centre for Neurosarcoidosis, Neuroimmunology unit, Institute of Immunology and Transplantation, University College London, London, UK
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12
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Deguchi I, Osada T, Suzuki T, Tabata S, Arai E, Uchino A, Hayashi T, Takahashi S, Momoshima S, Takao M. [Case of isolated neurosarcoidosis requiring differentiation from tuberculous meningitis]. Rinsho Shinkeigaku 2020; 60:213-218. [PMID: 32101846 DOI: 10.5692/clinicalneurol.cn-001387] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/05/2022]
Abstract
A 62-year-old woman was transported to our hospital for management of generalized clonic seizures. Cerebrospinal fluid examination showed an increased monocyte-dominant cell count, high protein concentration, and low glucose concentration that was 17% of the plasma glucose concentration. Contrast-enhanced cranial magnetic resonance imaging revealed diffuse leptomeningeal enhancement with multiple nodular lesions. She underwent examinations that ruled out the following conditions: tuberculous meningitis, systemic sarcoidosis, malignant lymphoma, carcinomatous meningitis, and central nervous system vasculitis. On hospital day 13, dural and brain biopsies revealed neurosarcoidosis, for which steroid therapy was administered. Thereafter, imaging examinations showed marked improvement. Because isolated neurosarcoidosis is difficult to diagnose, early pathologic diagnosis may be essential.
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Affiliation(s)
- Ichiro Deguchi
- Department of Neurology and Cerebrovascular Medicine, Saitama Medical University International Medical Center
| | - Takashi Osada
- Department of Neurology and Cerebrovascular Medicine, Saitama Medical University International Medical Center
| | - Tomonari Suzuki
- Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center
| | - Shinya Tabata
- Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center
| | - Eiichi Arai
- Department of Pathology, Saitama Medical University International Medical Center
| | - Akira Uchino
- Department of Diagnostic Radiology, Saitama Medical University International Medical Center
| | - Takeshi Hayashi
- Department of Neurology and Cerebrovascular Medicine, Saitama Medical University International Medical Center
| | - Shinichi Takahashi
- Department of Neurology and Cerebrovascular Medicine, Saitama Medical University International Medical Center
| | | | - Masaki Takao
- Department of Neurology and Cerebrovascular Medicine, Saitama Medical University International Medical Center
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13
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Saha BK, Saha A, Beegle S. Measurement of cerebrospinal fluid ACE level in aseptic meningitis: diagnostic? BMJ Case Rep 2019; 12:12/8/e230532. [PMID: 31451467 DOI: 10.1136/bcr-2019-230532] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
Abstract
Neurosarcoidosis (NS) is a rare disease, affecting only 3%-10% of patients with sarcoidosis. The clinical presentation can be protean and often represents a diagnostic challenge. Cerebrospinal fluid (CSF) ACE level has poor sensitivity, but high specificity for establishing a diagnosis of NS. We present a case of NS in a middle-aged African American woman who presented with dysphagia and dysphonia. An extensive radiological workup was negative for structural brain disease. CSF studies demonstrated lymphocyte predominant pleocytosis with an elevated ACE level. A diagnosis of possible neurosarcoidosis was made. She responded to systemic steroid therapy with complete resolution of her symptoms over the next five months. In the appropriate clinical setting, an elevated CSF ACE level could be of paramount importance for making a diagnosis of NS.
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Affiliation(s)
- Biplab Kumar Saha
- Pulmonary and Critical Care Medicine, Albany Medical Center Hospital, Albany, New York, USA
| | - Aditi Saha
- Internal Medicine, Saint Barnabas Medical Center, Livingston, New Jersey, USA
| | - Scott Beegle
- Pulmonary and Critical Care Medicine, Albany Medical Center Hospital, Albany, New York, USA
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Wilmshurst JM, Ouvrier RA, Ryan MM. Peripheral nerve disease secondary to systemic conditions in children. Ther Adv Neurol Disord 2019; 12:1756286419866367. [PMID: 31447934 PMCID: PMC6691669 DOI: 10.1177/1756286419866367] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/08/2019] [Accepted: 07/07/2019] [Indexed: 12/17/2022] Open
Abstract
This review is an overview of systemic conditions that can be associated with peripheral nervous system dysfunction. Children may present with neuropathic symptoms for which, unless considered, a causative systemic condition may not be recognized. Similarly, some systemic conditions may be complicated by comorbid peripheral neuropathies, surveillance for which is indicated. The systemic conditions addressed in this review are critical illness polyneuropathy, chronic renal failure, endocrine disorders such as insulin-dependent diabetes mellitus and multiple endocrine neoplasia type 2b, vitamin deficiency states, malignancies and reticuloses, sickle cell disease, neurofibromatosis, connective tissue disorders, bowel dysmotility and enteropathy, and sarcoidosis. In some disorders presymptomatic screening should be undertaken, while in others there is no benefit from early detection of neuropathy. In children with idiopathic peripheral neuropathies, systemic disorders such as celiac disease should be actively excluded. While management is predominantly focused on symptomatic care through pain control and rehabilitation, some neuropathies improve with effective control of the underlying etiology and in a small proportion a more targeted approach is possible. In conclusion, peripheral neuropathies can be associated with a diverse range of medical conditions and unless actively considered may not be recognized and inadequately managed.
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Affiliation(s)
- Jo M. Wilmshurst
- Department of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children’s, Hospital Neuroscience Institute, University of Cape Town, Klipfontein Road, Cape Town, Western Cape, 7700, South Africa
| | - Robert A. Ouvrier
- The Institute of Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, Australia
| | - Monique M. Ryan
- Department of Neurology, Royal Children’s Hospital, Murdoch Children’s Research Institute and University of Melbourne, Melbourne, Victoria, Australia
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Al-Afif S, Hatipoglu Majernik G, Al Krinawe Y, Esmaeilzadeh M, Hartmann C, Krauss JK. The Role of Neurosurgery in the Treatment of Intracranial Tumor-Like Inflammatory Lesions. World Neurosurg 2019; 124:e81-e95. [PMID: 30554001 DOI: 10.1016/j.wneu.2018.12.003] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/30/2018] [Revised: 11/30/2018] [Accepted: 12/03/2018] [Indexed: 10/27/2022]
Abstract
BACKGROUND Different inflammatory diseases can manifest as intracranial lesions. They may be indistinguishable from intracranial neoplasms in the clinical setting, imaging studies, or laboratory studies. The value of surgery in the diagnosis and the treatment of such lesions is still unclear. METHODS A total of 3066 reports of histopathologic examinations over a 10-year period were reviewed. Forty patients with an inflammatory intracranial lesion were identified. Clinical, radiologic, and follow-up data were analyzed and the diagnostic and therapeutic value of surgery was assessed. RESULTS We identified 24 women and 16 men (mean age, 47 years). The diameter of the lesion varied between 1 and 5.5 cm (mean, 2.6 cm). The location of the inflammatory lesion was intracerebral supratentorial (n = 18, 45%), intrasellar/suprasellar (n = 5, 12.5%), cerebellar (n = 5, 12.5%), in the brainstem (n = 4, 10%), in the cerebellopontine angle (n = 3, 7.5%), meningeal (n = 3, 7.5%), and at other locations (n = 6, 15%). Seventeen patients underwent surgical removal of the mass lesion, whereas in 23 patients a biopsy was taken. The lesions were classified into 7 groups: specific (infectious) granuloma (n = 10, 25%), unspecific granuloma (n = 7, 17.5%), idiopathic inflammatory pseudotumor (n = 5, 12.5%), demyelinating lesions (n = 5, 12.5%) encapsulated hematoma (n = 4, 10%), organized cerebral infarction (n = 3, 7.5%), and vasculitis (n = 4, 10%). Surgery was judged as valuable in 35 patients (87.5%). CONCLUSIONS The differential diagnosis of intracranial inflammatory lesions involves a wide spectrum. Surgery has a diagnostic and/or therapeutic value in most entities and clinical circumstances. However, attention must be taken to avoid surgery without a therapeutic or diagnostic value for the patient.
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Affiliation(s)
- Shadi Al-Afif
- Department of Neurosurgery, Institute for Pathology, Hannover Medical School, Hannover, Germany.
| | | | - Yazeed Al Krinawe
- Department of Neurosurgery, Institute for Pathology, Hannover Medical School, Hannover, Germany
| | - Majid Esmaeilzadeh
- Department of Neurosurgery, Institute for Pathology, Hannover Medical School, Hannover, Germany
| | - Christian Hartmann
- Department of Neuropathology, Institute for Pathology, Hannover Medical School, Hannover, Germany
| | - Joachim K Krauss
- Department of Neurosurgery, Institute for Pathology, Hannover Medical School, Hannover, Germany
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16
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Campagna G, Prospero Ponce CM, Vickers A, Hong BYB, Pellegrini F, Cirone D, Romano F, Machin P, Lee AG. Neuro-Ophthalmic Sarcoidosis. Neuroophthalmology 2019; 44:319-326. [PMID: 33012922 DOI: 10.1080/01658107.2019.1583761] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/27/2022] Open
Abstract
Background: In the absence of confirmatory biopsy, the criteria for diagnosis of neuro-ophthalmic sarcoidosis are not well established. Diagnostic criteria for both intraocular sarcoidosis and neurosarcoidosis have been proposed, but the diagnosis of neuro-ophthalmic sarcoidosis remains challenging. It is our intention to augment what is currently known about the diagnosis of neuro-ophthalmic sarcoidosis by providing a series of biopsy-proven cases that contribute to the continued development of diagnostic criteria for this enigmatic condition. Methods: Case series of four Caucasian women with biopsy-proven neuro-ophthalmic sarcoidosis. Results: The first patient was initially diagnosed with traumatic optic neuropathy following a fall. Years later, the presence of pathologic submandibular lymphadenopathy was identified and biopsied, revealing non-caseating granulomas. The second and third cases involved sarcoidosis of the extraocular muscles without clear or common systemic features of sarcoidosis. In the fourth and final case, the patient presented with a Horner syndrome attributed to sarcoid infiltration of the ipsilateral sympathetic chain. Bronchoscopy with biopsy showed non-caseating granulomas consistent with sarcoidosis. Conclusions: We describe four cases of neuro-ophthalmic sarcoidosis and propose possible neuro-orbital and neuro-ophthalmic criteria both with and without diagnostic biopsy.
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Affiliation(s)
| | - Claudia M Prospero Ponce
- Department of Pathology and Genomic Medicine, Ocular Pathology, Houston Methodist Hospital, Houston, Texas, USA
| | - Aroucha Vickers
- Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA
| | - Bennett Yau-Bun Hong
- Department of Ophthalmology and Visual Sciences, The University of Texas Medical Branch, Galveston, Texas, USA
| | - Francesco Pellegrini
- Neuro-Ophthalmology Service, Department of Ophthalmology, De Gironcoli Hospital, Conegliano, Italy
| | - Daniele Cirone
- Uveitis Service, Department of Ophthalmology, Clinica Villa Anna, San Benedetto del Tronto, Italy
| | - Francesco Romano
- Neuro-Ophthalmology Service, Department of Ophthalmology, De Gironcoli Hospital, Conegliano, Italy
| | | | - Andrew G Lee
- Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA.,Department of Ophthalmology and Visual Sciences, The University of Texas Medical Branch, Galveston, Texas, USA.,Departments of Ophthalmology, Neurology, and Neurosurgery, Weill Cornell Medicine, New York City, New York, USA.,Department of Ophthalmology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
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17
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Blume C, Tuleta I, Nolte K, Eichhorn KW, Jakob M, Clusmann H, Send T. Neurosarcoidosis As a Rare Differential Diagnosis for Single Or Multiple Lesions of the Nervous System. Br J Neurosurg 2018; 34:495-499. [PMID: 30295542 DOI: 10.1080/02688697.2018.1506094] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/28/2022]
Abstract
Objective: Sarcoidosis is a multisystemic granulomatous disease of unknown cause which affects the lung or bilateral hilar lymphadenopathy in over 90% of the cases. Neurosarcoidosis (NS) is rare and accounts for approximately 5 - 15% of the cases. Involvement of all parts of the central and peripheral nervous system is possible with various clinical symptoms, e. g. seizures, hydrocephalus, optic/facial nerve palsy or hearing loss.Methods: We screened the neuropathological data bases and the medical records of two neurosurgical university hospitals for cases of NS. All these cases had been verified by surgical biopsy. We retrospectively evaluated the patient's records with special regard to the histopathology reports and specific clinical symptoms.Results: We identified 9 cases of NS between 1994 and 2014 (3 female, 6 male patients). The average age at the time of diagnosis of NS was 41,4 years. Various clinical symptoms like hydrocephalus (n = 3), seizures (n = 1), meningitis (n = 1), optical nerve involvment with vision disorder (n = 1), myelitis with paraplegia (n = 1), mastoiditis with hearing loss (n = 1), back pain syndrome (n = 2) were present. 7 patients were treated with corticosteroids, 1 patient with cyclophosphamide and 1 with a combination of corticosteroids and methotrexate.Conclusion: NS is a rare but potentially life-threatening disease. It is difficult to distinguish sarcoidosis from other granulomatous diseases, infectious diseases like tuberculosis, multiple sclerosis or neoplasm. For a definite diagnosis, a neurosurgical biopsy with histological evidence of noncaseating epithelioid cell granulomas is required, followed by multidisciplinary treatment.
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Affiliation(s)
- Christian Blume
- Department of Neurosurgery, University of Aachen (RWTH), Aachen, Germany
| | - Izabela Tuleta
- Department of Internal Medicine II, Cardiology and Pulmonology, University of Bonn, Bonn, Germany
| | - Kay Nolte
- Institute of Neuropathology, University of Aachen (RWTH), Germany
| | - Klaus W Eichhorn
- Department of Otorhinolaryngology, Head and Neck Surgery, University of Bonn, Bonn, Germany
| | - Mark Jakob
- Department of Otorhinolaryngology, Head and Neck Surgery, University of Bonn, Bonn, Germany
| | - Hans Clusmann
- Department of Neurosurgery, University of Aachen (RWTH), Aachen, Germany
| | - Thorsten Send
- Department of Otorhinolaryngology, Head and Neck Surgery, University of Bonn, Bonn, Germany
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18
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Bathla G, Watal P, Gupta S, Soni N, Capizzano A, Derdeyn C, Moritani T. Cerebrovascular manifestations in neurosarcoidosis: how common are they and does perivascular enhancement matter? Clin Radiol 2018; 73:907.e15-907.e23. [DOI: 10.1016/j.crad.2018.05.018] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/13/2018] [Accepted: 05/15/2018] [Indexed: 10/28/2022]
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Kidd DP. Sarcoidosis of the central nervous system: clinical features, imaging, and CSF results. J Neurol 2018; 265:1906-1915. [PMID: 29922952 DOI: 10.1007/s00415-018-8928-2] [Citation(s) in RCA: 48] [Impact Index Per Article: 6.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/14/2018] [Revised: 06/02/2018] [Accepted: 06/05/2018] [Indexed: 12/17/2022]
Abstract
OBJECTIVE Neurological complications of systemic sarcoidosis are uncommon and the natural history and optimal treatments under-researched. With the advent of modern biological therapies, it is important to define the clinical characteristics and immunopathology of the disease. METHODS Patients referred to and treated within the Centre for Neurosarcoidosis over a 15 year period who had biopsy-proven "highly probable" disease of the central nervous system were studied prospectively. RESULTS 166 patients were studied, of whom two-thirds had involvement of the brain and spinal cord and the remainder cranial neuropathies and radiculopathy. Imaging was abnormal in all those with meningeal and parenchymal diseases, and was normal in 37% of those with cranial neuropathy. Those with leptomeningeal disease had a more severe disorder, with hydrocephalus and tissue destruction, whereas those with pachymeningeal disease had more striking imaging features but less neurological impairment. The CSF was active in 70% of cases, even when imaging was normal. Disability correlated with CSF indices in those with a leptomeningitis. Oligoclonal bands were seen in 30% of cases and correlated with disability and the presence of hydrocephalus. Unmatched bands were seen only in isolated neurological disease. CONCLUSIONS This prospective study of neurosarcoidosis increases our understanding of the pathophysiology of the disease. A reclassification of the clinical and imaging features of the disease allows an understanding of its pathophysiology and correlation with CSF indices allows an early identification of those with a more destructive disease will help to define treatment and may thereby improve outcome.
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Affiliation(s)
- Desmond P Kidd
- Centre for Neurosarcoidosis, Neuroimmunology Unit, Institute of Immunity and Transplantation, University College London, London, NW3 2PF, UK.
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20
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Vereecken M, Hollanders K, De Bruyn D, Ninclaus V, De Zaeytijd J, De Schryver I. An atypical case of neurosarcoidosis presenting with neovascular glaucoma. J Ophthalmic Inflamm Infect 2018; 8:7. [PMID: 29671151 PMCID: PMC5906415 DOI: 10.1186/s12348-018-0149-4] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/12/2017] [Accepted: 03/19/2018] [Indexed: 01/27/2023] Open
Abstract
Background Sarcoidosis, a multisystem, granulomatous disorder, sometimes manifests with a neuro-ophthalmic subtype. The latter can pose a diagnostic challenge, especially when ocular symptoms appear before systemic involvement, as the clinical picture then can be non-specific and systemic laboratory and standard imaging investigations can be negative. Findings A 71-year-old woman presented with a 4-month history of sudden-onset visual loss in the left eye. Slit lamp examination revealed anterior chamber cells, iris, and angle neovascularization. Fundoscopy showed a pale edematous optic nerve head surrounded with intraretinal hemorrhages and yellow retinal infiltrates. The vasculature was very narrow to absent. Indeed, fluorescein angiography filling was limited to the (juxta-)papillary region. An extensive systemic work-up revealed a monoclonal gammopathy and absence of any inflammatory markers. On MRI, a mass infiltration of the intraorbital and the intracranial optic nerve was visible. Additional PET-CT scan revealed hilar lymph nodes. A transbronchial biopsy demonstrating a non-caseating granulomatous lesion led to the diagnosis of sarcoidosis and thus neurosarcoidosis. Treatment with high-dose prednisone and azathioprine was started to avoid progression and subsequent visual loss in the other eye. Conclusions A patient with neurosarcoidosis presenting with compressive ischemic optic disc edema and neovascular glaucoma is described, increasing the diversity of clinical presentations and confirming the diagnostic challenge of neurosarcoidosis.
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Affiliation(s)
- Melissa Vereecken
- Department of Ophthalmology, University Hospital Ghent, De Pintelaan 185, 9000, Ghent, Belgium.
| | - Karolien Hollanders
- Department of Ophthalmology, University Hospital Ghent, De Pintelaan 185, 9000, Ghent, Belgium
| | - Deborah De Bruyn
- Department of Ophthalmology, University Hospital Ghent, De Pintelaan 185, 9000, Ghent, Belgium
| | - Virginie Ninclaus
- Department of Ophthalmology, University Hospital Ghent, De Pintelaan 185, 9000, Ghent, Belgium
| | - Julie De Zaeytijd
- Department of Ophthalmology, University Hospital Ghent, De Pintelaan 185, 9000, Ghent, Belgium
| | - Ilse De Schryver
- Department of Ophthalmology, University Hospital Ghent, De Pintelaan 185, 9000, Ghent, Belgium
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21
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Maskery MP, Cooper PN, Pace A. Neurosarcoidosis associated with intracerebral haemorrhage: a challenge in diagnosis and management. Pract Neurol 2018; 18:246-249. [PMID: 29363557 DOI: 10.1136/practneurol-2017-001794] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 12/30/2017] [Indexed: 11/04/2022]
Abstract
Sarcoidosis is an idiopathic multisystem granulomatous disorder of unknown cause. Nervous system involvement (central and/or peripheral) is uncommon, developing in 5%-10%. The presenting symptoms are variable, reflecting the level of involvement, and frequently fluctuate and progress. Diagnosing neurosarcoidosis in people with previously confirmed systemic disease may be relatively straightforward, but diagnosing primary neurosarcoidosis is challenging. Managing neurosarcoidosis is primarily consensus based; corticosteroid is its mainstay, alongside corticosteroid-sparing agents and emerging novel therapies. We describe a 39-year-old woman who presented with cranial neuropathy. Serial imaging, cerebrospinal fluid sampling and tissue biopsy gave a diagnosis of probable neurosarcoidosis. Her clinical course was complicated by intracerebral haemorrhage following intravenous corticosteroids for neurological relapse. This is a very rare complication of neurosarcoidosis; we discuss its possible causes and suggest ways to reduce its risk.
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Affiliation(s)
- Mark Peter Maskery
- Department of Neurology, Salford Royal NHS Foundation Trust, Salford, UK
| | - Paul N Cooper
- Department of Neurology, Salford Royal NHS Foundation Trust, Salford, UK
| | - Adrian Pace
- Department of Neurology, Salford Royal NHS Foundation Trust, Salford, UK
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22
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Affiliation(s)
- D Smith
- Department of Endocrinology, St James's Hospital, James's Street, Dublin 2, Ireland.
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23
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Cação G, Branco A, Meireles M, Alves JE, Mateus A, Silva AM, Santos E. Neurosarcoidosis according to Zajicek and Scolding criteria: 15 probable and definite cases, their treatment and outcomes. J Neurol Sci 2017; 379:84-88. [PMID: 28716286 DOI: 10.1016/j.jns.2017.05.055] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2016] [Revised: 05/09/2017] [Accepted: 05/26/2017] [Indexed: 01/14/2023]
Abstract
INTRODUCTION Neurosarcoidosis occurs in about 5% to 15% of patients with sarcoidosis. The purpose of this study was to identify and characterize a cohort of neurosarcoidosis patients and to review the largest previously reported neurosarcoidosis case series. METHODS This retrospective study enrolled all patients with the diagnosis of probable or definitive neurosarcoidosis according to Zajicek and Scolding criteria, followed at the neurology department of a tertiary center in Portugal from January 1989 to December 2015. RESULTS A total of 15 patients presented a diagnosis of probable or definitive neurosarcoidosis, with a mean age at time of diagnosis of 38.5years. The presenting neurologic syndrome was isolated cranial neuropathy, aseptic meningitis, myelitis, brain parenchymal lesion, myelorradiculitis and meningomyelorradiculitis. MRI study most often presented different enhancing lesions and the CSF analysis commonly revealed a lymphocytic pleocytosis and raised proteins. Thirteen patients had histopathology confirmation of systemic sarcoidosis and one preformed a spinal cord biopsy. Corticosteroids was the most often used treatment alone or in combination with immunosuppressive drugs. After a mean follow-up of 86.1months, the majority of patients fully recovered to a mRankin 0. DISCUSSION Fully comprehension of neurosarcoidosis is still a challenge due to its rarity and limited number of large published series, which renders the epidemiological study of this disease very difficult. In this study, the thoroughly medical records review and the summarize of previous published cohorts allow to add some information in the epidemiological and clinical knowledge of this entity.
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Affiliation(s)
- Gonçalo Cação
- Neurology Department, Centro Hospitalar do Porto, Porto, Portugal.
| | - Ana Branco
- Internal Medicine Department, Centro Hospitalar da Cova da Beira, Covilha, Portugal
| | - Mariana Meireles
- Internal Medicine Department, Centro Hospitalar do Porto, Porto, Portugal
| | | | - Andrea Mateus
- Internal Medicine Department, Centro Hospitalar do Porto, Porto, Portugal
| | - Ana Martins Silva
- Neurology Department, Centro Hospitalar do Porto, Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Portugal
| | - Ernestina Santos
- Neurology Department, Centro Hospitalar do Porto, Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar, University of Porto, Portugal
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Mortaz E, Adcock IM, Abedini A, Kiani A, Kazempour-Dizaji M, Movassaghi M, Garssen J. The role of pattern recognition receptors in lung sarcoidosis. Eur J Pharmacol 2017; 808:44-48. [PMID: 28108375 DOI: 10.1016/j.ejphar.2017.01.020] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/18/2015] [Revised: 01/15/2017] [Accepted: 01/16/2017] [Indexed: 12/21/2022]
Abstract
Sarcoidosis is a granulomatous disorder of unknown etiology. Infection, genetic factors, autoimmunity and an aberrant innate immune system have been explored as potential causes of sarcoidosis. The etiology of sarcoidosis remains unknown, and it is thought that it might be caused by an infectious agent in a genetically predisposed, susceptible host. Inflammation results from recognition of evolutionarily conserved structures of pathogens (Pathogen-associated molecular patterns, PAMPs) and/or from reaction to tissue damage associated patterns (DAMPs) through recognition by a limited number of germ line-encoded pattern recognition receptors (PRRs). Due to the similar clinical and histopathological picture of sarcoidosis and tuberculosis, Mycobacterium tuberculosis antigens such early secreted antigen (ESAT-6), heat shock proteins (Mtb-HSP), catalase-peroxidase (katG) enzyme and superoxide dismutase A peptide (sodA) have been often considered as factors in the etiopathogenesis of sarcoidosis. Potential non-TB-associated PAMPs include lipopolysaccharide (LPS) from the outer membrane of Gram-negative bacteria, peptidoglycan, lipoteichoic acid, bacterial DNA, viral DNA/RNA, chitin, flagellin, leucine-rich repeats (LRR), mannans in the yeast cell wall, and microbial HSPs. Furthermore, exogenous non-organic antigens such as metals, silica, pigments with/without aluminum in tattoos, pesticides, and pollen have been evoked as potential causes of sarcoidosis. Exposure of the airways to diverse infectious and non-infectious agents may be important in the pathogenesis of sarcoidosis. The current review provides and update on the role of PPRs and DAMPs in the pathogenesis of sarcoidsis.
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Affiliation(s)
- Esmaeil Mortaz
- Department of Immunology, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
| | - Ian M Adcock
- Airways Disease Section, National Heart and Lung Institute, Imperial College London, London, UK
| | - Atefhe Abedini
- Chronic Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
| | - Arda Kiani
- Chronic Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
| | - Mehdi Kazempour-Dizaji
- Mycobacteriology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
| | - Masoud Movassaghi
- Department of Pathology and Laboratory Medicine, University of California, Los Angeles (UCLA), USA
| | - Johan Garssen
- Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Faculty of Sciences, Utrecht University, Utrecht, The Netherlands; Nutricia Research Centre for Specialized Nutrition, Utrecht, The Netherlands
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Neurosarcoidosis: a clinical approach to diagnosis and management. J Neurol 2016; 264:1023-1028. [PMID: 27878437 PMCID: PMC5413520 DOI: 10.1007/s00415-016-8336-4] [Citation(s) in RCA: 66] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/03/2016] [Accepted: 11/07/2016] [Indexed: 10/25/2022]
Abstract
Sarcoidosis is a rare but important cause of neurological morbidity, and neurological symptoms often herald the diagnosis. Our understanding of neurosarcoidosis has evolved from early descriptions of a uveoparotid fever to include presentations involving every part of the neural axis. The diagnosis should be suspected in patients with sarcoidosis who develop new neurological symptoms, those presenting with syndromes highly suggestive of neurosarcoidosis, or neuro-inflammatory disease where more common causes have been excluded. Investigation should look for evidence of neuro-inflammation, best achieved by contrast-enhanced brain magnetic resonance imaging and cerebrospinal fluid analysis. Evidence of sarcoidosis outside the nervous system should be sought in search of tissue for biopsy. Skin lesions should be identified and biopsies taken. Chest radiography including high-resolution computed tomography is often informative. In difficult cases, fluorodeoxyglucose positron emission tomography and gallium-67 imaging may identify subclinical disease and a target for biopsy. Symptomatic patients should be treated with corticosteroids, and if clinically indicated other immunosuppressants such as hydroxychloroquine, azathioprine, cyclophosphamide or methotrexate should be added. Anti-tumour necrosis factor alpha therapies may be considered in refractory disease but caution should be exercised as there is evidence to suggest they may unmask disease.
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Cohen Aubart F, Galanaud D, Haroche J, Psimaras D, Mathian A, Hié M, Le-Thi Huong Boutin D, Charlotte F, Maillart E, Maisonobe T, Amoura Z. [Neurosarcoidosis: Diagnosis and therapeutic issues]. Rev Med Interne 2016; 38:393-401. [PMID: 27884456 DOI: 10.1016/j.revmed.2016.10.392] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/07/2016] [Revised: 08/17/2016] [Accepted: 10/24/2016] [Indexed: 12/15/2022]
Abstract
Neurological localizations of sarcoidosis are heterogeneous and may affect virtually every part of the central or peripheral nervous system. They are often the inaugural manifestation of sarcoidosis. The diagnosis may be difficult due to the lack of extra-neurological localization. Diagnosis may be discussed in the presence of an inflammatory neurological disease, in particular in case of suggestive radiological or biological pattern. Cerebrospinal fluid analysis shows lymphocytic pleiocytosis, often with low glucose level. The diagnosis relies on a clinical, biological and radiological presentation consistent with neurosarcoidosis, the presence of non-caseating granuloma and exclusion of differential diagnoses. Screening for other localizations of sarcoidosis, in particular cardiac disease may be obtained during neurosarcoidosis. The treatment of neurosarcoidosis relies on corticosteroids although immunosuppressive drugs are usually added because of the chronic course of this condition and to limit the side effects of steroids. Treatments and follow-up may be prolonged because of the high rate of relapses.
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Affiliation(s)
- F Cohen Aubart
- Service de médecine interne 2, institut e3M, hôpital de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Université Paris VI, Sorbonnes universités, 75013 Paris, France.
| | - D Galanaud
- Université Paris VI, Sorbonnes universités, 75013 Paris, France; Service de neuroradiologie, hôpital de la Pitié-Salpêtrière, AP-HP, 75013 Paris, France
| | - J Haroche
- Service de médecine interne 2, institut e3M, hôpital de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Université Paris VI, Sorbonnes universités, 75013 Paris, France
| | - D Psimaras
- Service de neurologie, hôpital de la Pitié-Salpêtrière, AP-HP, 75013 Paris, France
| | - A Mathian
- Service de médecine interne 2, institut e3M, hôpital de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France
| | - M Hié
- Service de médecine interne 2, institut e3M, hôpital de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France
| | - D Le-Thi Huong Boutin
- Service de médecine interne 2, institut e3M, hôpital de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France
| | - F Charlotte
- Service d'anatomo-pathologie, hôpital de la Pitié-Salpêtrière, AP-HP, 75013 Paris, France
| | - E Maillart
- Fédération des maladies du système nerveux, hôpital de la Pitié-Salpêtrière, AP-HP, 75013 Paris, France
| | - T Maisonobe
- Départements de neurophysiologie et neuropathologie, hôpital de la Pitié-Salpêtrière, AP-HP, 75013 Paris, France
| | - Z Amoura
- Service de médecine interne 2, institut e3M, hôpital de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Université Paris VI, Sorbonnes universités, 75013 Paris, France
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Fritz D, van de Beek D, Brouwer MC. Clinical features, treatment and outcome in neurosarcoidosis: systematic review and meta-analysis. BMC Neurol 2016; 16:220. [PMID: 27846819 PMCID: PMC5109654 DOI: 10.1186/s12883-016-0741-x] [Citation(s) in RCA: 217] [Impact Index Per Article: 24.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/19/2016] [Accepted: 11/03/2016] [Indexed: 12/24/2022] Open
Abstract
Background Neurosarcoidosis is a rare variant of sarcoidosis and is only described in small cohort studies. We define clinical features, treatment and outcome of patients with neurosarcoidosis over the last 35 years. Methods We performed a systematic review and meta-analysis of studies on neurosarcoidosis published between 1980 and 2016. Studies were included if they reported at least 5 cases. Studies describing one specific neurological presentation were excluded. Results We identified 29 articles describing 1088 patients diagnosed between 1965 and 2015. Neurosarcoidosis occurred in 5% of patients with systemic sarcoidosis. Mean age at presentation was 43 years and neurological symptoms were the first clinical manifestation of sarcoidosis in 52%. The most commonly reported feature of neurosarcoidosis was cranial neuropathy in 55%, with the facial and optic nerve most commonly affected, followed by headache in 32%. Pleiocytosis and elevated CSF protein were found in 58 and 63%. MRI of the brain showed abnormalities in 70%. Chest X-ray, chest CT, or gallium-67-scintigraphy showed findings consistent with sarcoidosis in 60%, 70% and 69%, respectively. First line therapy with corticosteroids was initiated in 434 of 539 patients (81%). Second and third line therapy was started in 27 and 9%. Outcome consisted of complete remission in 27%, incomplete remission in 32%, stable disease in 24%, deterioration in 6% and death in 5%. Conclusion Neurosarcoidosis has a heterogeneous clinical presentation and the diagnosis can be difficult because of low sensitivity of ancillary investigations. New treatments have emerged, but nevertheless one third of patients do not respond to treatment. Prospective cohort studies and RCTs on treatment are urgently needed. Electronic supplementary material The online version of this article (doi:10.1186/s12883-016-0741-x) contains supplementary material, which is available to authorized users.
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Affiliation(s)
- Daan Fritz
- Department of Neurology, Academic Medical Centre, Amsterdam Neuroscience, Meibergdreef 9, Amsterdam, 1105AZ, The Netherlands
| | - Diederik van de Beek
- Department of Neurology, Academic Medical Centre, Amsterdam Neuroscience, Meibergdreef 9, Amsterdam, 1105AZ, The Netherlands
| | - Matthijs C Brouwer
- Department of Neurology, Academic Medical Centre, Amsterdam Neuroscience, Meibergdreef 9, Amsterdam, 1105AZ, The Netherlands.
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Wang K, He X, Wang W, Niu H, Wang Y, Cai X, Yang S. Isolated neurosarcoidosis mimicking multifocal meningiomas: a diagnosis pitfall: A case report. Medicine (Baltimore) 2016; 95:e4994. [PMID: 27861333 PMCID: PMC5120890 DOI: 10.1097/md.0000000000004994] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/15/2022] Open
Abstract
INTRODUCTION Neurosarcoidosis accounts for approximately 5% of the sarcoidosis, which develops exclusively in the nervous system and is always difficult to diagnose. We describe a rare case of isolated neurosarcoidosis mimicking as multifocal meningiomas. A 27-year-old male was admitted to our hospital with a history of unconsciousness and convulsion 1 month ago, which was suspected as a seizure. The results showed no abnormalities in complete blood count; serum electrolytes; erythrocyte sedimentation rate and ultrasonography of the liver, pancreas, spleen, kidney and parotid gland, and so on. Chest radiograph and electroencephalogram were also normal. Serum-angiotensin-converting enzyme slightly increased. Normal opening pressure was shown in cerebrospinal fluid sampling, which includes 8/μL white blood cells, 0.93 g/L protein, and 3.03 mmol/L glucose. Enhanced magnetic resonance imaging revealed multifocal enhancement lesions, including left sphenoid wing region, left temporal and bilateral occipitoparietal region, which were suspected as multiple "meningioma". A left frontotemporal craniotomy was further performed. Both necrotizing and non-necrotizing granulomas were revealed in the pathological specimen, most of which were associated with multinucleated giant cells and macrophages. We could also see the fibrosis and inflammatory reaction in the sample composed of lymphocytes, histiocytes, and plasma cells. Histopathological examination showed that the cells were positive for human CD68 (KP1), CD68 (PGM1), and CD163; however, they were negative for the AF, epithelial membrane antigen, and glial fibrillary acidic protein. Tuberculosis-deoxyribonucleic acid test and special stains for acid-fast bacilli and fungi were negative. The diagnosis was finally made as isolated neurosarcoidosis. Then the patient was treated with additional corticosteroid therapy. Serial imaging examination 4 months later revealed that the lesions extremely decreased. CONCLUSION The diagnosis of isolated central nervous system sarcoidosis was still difficult because of limitations of available diagnostic tests. So neurosarcoidosis in the clinical work should never be neglected.
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Affiliation(s)
- Kun Wang
- Department of Neurosurgery, Hangzhou Xiasha Hospital
| | | | - Wei Wang
- Department of Pharmacy, Hangzhou Xiasha Hospital
| | | | | | - Xiujun Cai
- Department of General Surgery, Sir Run Run Shaw Hospital, Medical College, Zhejiang University, Hangzhou, People's Republic of China
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Palmucci S, Torrisi SE, Caltabiano DC, Puglisi S, Lentini V, Grassedonio E, Vindigni V, Reggio E, Giuliano R, Micali G, Caltabiano R, Andreula C, Foti PV, Ettorre GC, Walsh SL, Vancheri C. Clinical and radiological features of extra-pulmonary sarcoidosis: a pictorial essay. Insights Imaging 2016; 7:571-587. [PMID: 27222055 PMCID: PMC4956623 DOI: 10.1007/s13244-016-0495-4] [Citation(s) in RCA: 29] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/30/2015] [Revised: 04/07/2016] [Accepted: 04/22/2016] [Indexed: 12/19/2022] Open
Abstract
UNLABELLED The aim of this manuscript is to describe radiological findings of extra-pulmonary sarcoidosis. Sarcoidosis is an immune-mediated systemic disease of unknown origin, characterized by non-caseating epitheliod granulomas. Ninety percent of patients show granulomas located in the lungs or in the related lymph nodes. However, lesions can affect any organ. Typical imaging features of liver and spleen sarcoidosis include visceromegaly, with multiple nodules hypodense on CT images and hypointense on T2-weighted MRI acquisitions. Main clinical and radiological manifestations of renal sarcoidosis are nephrolithiasis, nephrocalcinosis, and acute interstitial nephritis. Brain sarcoidosis shows multiple or solitary parenchymal nodules on MRI that enhance with a ring-like appearance after gadolinium. In spinal cord localization, MRI demonstrates enlargement and hyperintensity of spinal cord, with hypointense lesions on T2-weighted images. Skeletal involvement is mostly located in small bone, showing many lytic lesions; less frequently, bone lesions have a sclerotic appearance. Ocular involvement includes uveitis, conjunctivitis, optical nerve disease, chorioretinis. Erythema nodosum and lupus pernio represent the most common cutaneous manifestations encountered. Sarcoidosis in various organs can be very insidious for radiologists, showing different imaging features, often non-specific. Awareness of these imaging features helps radiologists to obtain the correct diagnosis. TEACHING POINTS • Systemic sarcoidosis can exhibit abdominal, neural, skeletal, ocular, and cutaneous manifestations. • T2 signal intensity of hepatosplenic nodules may reflect the disease activity. • Heerfordt's syndrome includes facial nerve palsy, fever, parotid swelling, and uveitis. • In the vertebrae, osteolytic and/or diffuse sclerotic lesions can be found. • Erythema nodosum and lupus pernio represent the most common cutaneous manifestations.
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Affiliation(s)
- Stefano Palmucci
- Radiodiagnostic and Radiotherapy Unit, University Hospital "Policlinico-Vittorio Emanuele", Via Santa Sofia 78, 95123, Catania, Italy.
| | - Sebastiano Emanuele Torrisi
- Regional Centre for Interstitial and Rare Lung Diseases, Department of Clinical and Molecular Biomedicine, University Hospital Policlinico-Vittorio Emanuele, Via Santa Sofia 78, 95123, Catania, Italy
| | - Daniele Carmelo Caltabiano
- Radiodiagnostic and Radiotherapy Unit, University Hospital "Policlinico-Vittorio Emanuele", Via Santa Sofia 78, 95123, Catania, Italy
| | - Silvia Puglisi
- Regional Centre for Interstitial and Rare Lung Diseases, Department of Clinical and Molecular Biomedicine, University Hospital Policlinico-Vittorio Emanuele, Via Santa Sofia 78, 95123, Catania, Italy
| | - Viviana Lentini
- Unit of Diagnostic and Interventional Radiology, ARNAS Garibaldi, Catania, Italy
| | - Emanuele Grassedonio
- Section of Radiological Sciences, DIBIMEF, University Hospital "Paolo Giaccone" University of Palermo, Palermo, Italy
| | - Virginia Vindigni
- Regional Centre for Interstitial and Rare Lung Diseases, Department of Clinical and Molecular Biomedicine, University Hospital Policlinico-Vittorio Emanuele, Via Santa Sofia 78, 95123, Catania, Italy
| | - Ester Reggio
- Department of G. F. Ingrassia, Section of Neurosciences, University Hospital Policlinico-Vittorio Emanuele, Via Santa Sofia 78, 95123, Catania, Italy
| | - Riccardo Giuliano
- Regional Centre for Interstitial and Rare Lung Diseases, Department of Clinical and Molecular Biomedicine, University Hospital Policlinico-Vittorio Emanuele, Via Santa Sofia 78, 95123, Catania, Italy
| | | | - Rosario Caltabiano
- Department of G.F. Ingrassia, Institute of Pathology, University Hospital Policlinico-Vittorio Emanuele, Catania, Italy
| | - Cosma Andreula
- Neuroradiology and Radiology, Anthea Hospital Bari, Gruppo Villa Maria, Puglia, Italy
| | - Pietro Valerio Foti
- Radiodiagnostic and Radiotherapy Unit, University Hospital "Policlinico-Vittorio Emanuele", Via Santa Sofia 78, 95123, Catania, Italy
| | - Giovanni Carlo Ettorre
- Radiodiagnostic and Radiotherapy Unit, University Hospital "Policlinico-Vittorio Emanuele", Via Santa Sofia 78, 95123, Catania, Italy
| | - Simon Lf Walsh
- Department of Radiology, Kings College Hospital Foundation Trust, Denmark Hill, London, UK
| | - Carlo Vancheri
- Regional Centre for Interstitial and Rare Lung Diseases, Department of Clinical and Molecular Biomedicine, University Hospital Policlinico-Vittorio Emanuele, Via Santa Sofia 78, 95123, Catania, Italy
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Abstract
INTRODUCTION Numerous biomarkers have been evaluated for the diagnosis, assessment of disease activity, prognosis, and response to treatment in sarcoidosis. In this report, we discuss the clinical and research utility of several biomarkers used to evaluate sarcoidosis. Areas covered: The sarcoidosis biomarkers discussed include serologic tests, imaging studies, identification of inflammatory cells and genetic analyses. Literature was obtained from medical databases including PubMed and Web of Science. Expert commentary: Most of the biomarkers examined in sarcoidosis are not adequately specific or sensitive to be used in isolation to make clinical decisions. However, several sarcoidosis biomarkers have an important role in the clinical management of sarcoidosis when they are coupled with clinical data including the results of other biomarkers.
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Affiliation(s)
- Amit Chopra
- a Division of Pulmonary and Critical Care Medicine , Albany Medical College , Albany , NY , USA
| | - Alexandros Kalkanis
- b Department of Medicine , Division of Pulmonary and Critical Care Medicine , Athens , Greece
| | - Marc A Judson
- a Division of Pulmonary and Critical Care Medicine , Albany Medical College , Albany , NY , USA
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Abstract
Sarcoidosis has innumerable clinical manifestations, as the disease may affect every body organ. Furthermore, the severity of sarcoidosis involvement may range from an asymptomatic state to a life-threatening condition. This manuscript reviews a wide variety of common and less common clinical characteristics of sarcoidosis. These manifestations are presented organ by organ, although additional sections describe systemic and multiorgan presentations of sarcoidosis. The lung is the organ most commonly involved with sarcoidosis with at least 90 % of sarcoidosis patients demonstrating lung involvement in most series. The skin, eye, liver, and peripheral lymph node are the next most commonly clinically involved organs in most series, with the frequency of involvement ranging from 10 to 30 %. The actual frequency of sarcoidosis organ involvement is probably much higher as it is frequently asymptomatic and may avoid detection. This is particularly common with lung, liver, cardiac, and bone involvement. Cardiac sarcoidosis is present in 25 % of all sarcoidosis but only causes clinical problems in 5 % of them. Nevertheless, unlike sarcoidosis involvement of most other organs, it may be suddenly fatal. Therefore, it is important to screen for cardiac sarcoidosis in all sarcoidosis patients. All sarcoidosis patients should also be screened for eye involvement as asymptomatic patients may have eye involvement that may cause permanent vision impairment. Pulmonary fibrosis from sarcoidosis is usually slowly progressive but may be life-threatening because of the development of respiratory failure, pulmonary hypertension, or hemoptysis related to a mycetoma or bronchiectasis. Some manifestations of sarcoidosis are not organ-specific and probably are the result of a release of mediators from the sarcoid granuloma. Two such manifestations include small fiber neuropathy and fatigue syndromes, and they are observed in a large percentage of patients.
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Durel CA, Marignier R, Maucort-Boulch D, Iwaz J, Berthoux E, Ruivard M, André M, Le Guenno G, Pérard L, Dufour JF, Turcu A, Antoine JC, Camdessanche JP, Delboy T, Sève P. Clinical features and prognostic factors of spinal cord sarcoidosis: a multicenter observational study of 20 BIOPSY-PROVEN patients. J Neurol 2016; 263:981-990. [PMID: 27007482 DOI: 10.1007/s00415-016-8092-5] [Citation(s) in RCA: 41] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/18/2015] [Revised: 03/07/2016] [Accepted: 03/08/2016] [Indexed: 11/30/2022]
Abstract
Sarcoidosis of the spinal cord is a rare disease. The aims of this study are to describe the features of spinal cord sarcoidosis (SCS) and identify prognostic markers. We analyzed 20 patients over a 20-year period in 8 French hospitals. There were 12 men (60 %), mostly Caucasian (75 %). The median ages at diagnosis of sarcoidosis and myelitis were 34.5 and 37 years, respectively. SCS revealed sarcoidosis in 12 patients (60 %). Eleven patients presented with motor deficit (55 %) and 9 had sphincter dysfunction (45 %). The median initial Edmus Grading Scale (EGS) score was 2.5. The cerebrospinal fluid (CSF) showed elevated protein level (median: 1.00 g/L, interquartile range (IQR) 0.72-1.97), low glucose level (median 2.84 mmol/L, IQR 1.42-3.45), and elevated white cell count (median 22/mm(3), IQR 6-45). The cervical and thoracic cords were most often affected (90 %). All patients received steroids and an immunosuppressive drug was added in 10 cases (50 %). After a mean follow-up of 52.1 months (range 8-43), 18 patients had partial response (90 %), 7 displayed functional impairment (35 %), and the median final EGS score was 1. Six patients experienced relapse (30 %). There was an association between the initial and the final EGS scores (p = 0.006). High CSF protein level showed a trend toward an association with relapse (p = 0.076). The spinal cord lesion was often the presenting feature of sarcoidosis. Most patients experienced clinical improvement with corticosteroids and/or immunosuppressive treatment. The long-term functional prognosis was correlated with the initial severity.
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Affiliation(s)
- Cécile-Audrey Durel
- Département de Médicine Interne, Hôpital de la Croix-Rousse, Hospices Civils de Lyon, 69004, Lyon, France. .,Université de Lyon, Université Lyon 1, 69100, Villeurbanne, France.
| | - Romain Marignier
- Département de Neurologie, Hôpital Pierre Wertheimer, Hospices Civils de Lyon, 69500, Bron, France
| | - Delphine Maucort-Boulch
- Université de Lyon, Université Lyon 1, 69100, Villeurbanne, France.,Service de Biostatistique, Hospices Civils de Lyon, 69003, Lyon, France.,CNRS UMR 555, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique Santé, 69100, Villeurbanne, France
| | - Jean Iwaz
- Université de Lyon, Université Lyon 1, 69100, Villeurbanne, France.,Service de Biostatistique, Hospices Civils de Lyon, 69003, Lyon, France.,CNRS UMR 555, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique Santé, 69100, Villeurbanne, France
| | - Emilie Berthoux
- Département de Médicine Interne, CH Saint Luc Saint Joseph, 69007, Lyon, France
| | - Marc Ruivard
- Département de Médecine Interne, CHU de Clermont-Ferrand, CHU Estaing, 63003, Clermont-Ferrand, France
| | - Marc André
- Service de Médecine Interne, CHU Clermont-Ferrand, Hôpital Gabriel Montpied, 63003, Clermont-Ferrand, France
| | - Guillaume Le Guenno
- Département de Médecine Interne, CHU de Clermont-Ferrand, CHU Estaing, 63003, Clermont-Ferrand, France
| | - Laurent Pérard
- Département de Médecine Interne, Hôpital Edouard Herriot, Hospices Civils de Lyon, 69008, Lyon, France
| | - Jean-François Dufour
- Département de Médecine Interne, Centre hospitalier Fleyriat, 01012, Bourg-en-Bresse, France
| | - Alin Turcu
- Département de Médecine Interne et Maladies Systémiques, CHU Dijon, 21079, Dijon, France
| | - Jean-Christophe Antoine
- Département de Neurologie, CHU de Saint-Etienne, Hôpital Nord, 42055, Saint Etienne Cedex 022, France
| | | | - Thierry Delboy
- Département de Médecine Interne, CH Montluçon, 03100, Montluçon, France
| | - Pascal Sève
- Département de Médicine Interne, Hôpital de la Croix-Rousse, Hospices Civils de Lyon, 69004, Lyon, France.,Université de Lyon, Université Lyon 1, 69100, Villeurbanne, France
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Anthony J, Esper GJ, Ioachimescu A. Hypothalamic-pituitary sarcoidosis with vision loss and hypopituitarism: case series and literature review. Pituitary 2016; 19:19-29. [PMID: 26267304 DOI: 10.1007/s11102-015-0678-x] [Citation(s) in RCA: 33] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/29/2023]
Abstract
PURPOSE Hypothalamic-pituitary (HP) neurosarcoidosis (NS) accounts for 0.5 % cases of sarcoidosis and 1 % of HP masses. Correlative data on endocrine and neurological outcomes is lacking. METHODS Retrospective case series and literature review of presentation, treatment and outcome of HP NS. RESULTS Our series includes 4 men, ages 34-59, followed for a median of 7.3 years (range 1.5-17). All had optic neuropathy, multiple pituitary hormone abnormalities (PHAs) and other organ involvement by sarcoidosis (lung, sino-nasal, brain/spine and facial nerve). Two patients had central diabetes insipidus and one impaired thirst with polydipsia. After treatment with high-dose glucocorticoids, optic neuropathy improved in one case and stabilized in the others. After treatment, HP lesions improved radiologically, but PHAs persisted in all cases. Review of four published series on HP NS in addition to ours yielded 46 patients, age 37 ± 11.8 years, 65 % male. PHAs consisted of anterior hypopituitarism (LH/FSH 88.8 %, TSH 67.4 %, GH 50.0 %, ACTH 48.8 %), hyperprolactinemia (48.8 %) and diabetes insipidus (65.2 %). PHAs were the first sign of disease in 54.3 % patients. Vision problems occurred in 28.3 % patients, but optic neuropathy was not well documented in previous series. Most patients (93.5 %) received high-dose glucocorticoids followed by taper; 50 % also received other immunomodulators, including methotrexate, mycophenolate mofetil, cyclosporine, azathioprine, infliximab and hydrochloroquine. Only 13 % patients showed improvement in PHAs. All-cause mortality was 8.7 %. CONCLUSION HP NS is a serious disease requiring multidisciplinary treatment and lifelong follow-up. Prospective multicentric studies are needed to determine a more standardized approach to HP NS and outline predictors of disease outcome.
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Affiliation(s)
- Jeremy Anthony
- Specialty Care, Atlanta Veterans Affairs Medical Center, Decatur, GA, USA
- Division of Endocrinology, Department of Medicine, Emory University, 1365 B Clifton Rd., NE, B6209, Atlanta, GA, 30322, USA
| | | | - Adriana Ioachimescu
- Division of Endocrinology, Department of Medicine, Emory University, 1365 B Clifton Rd., NE, B6209, Atlanta, GA, 30322, USA.
- Department of Neurosurgery, Emory University, Atlanta, GA, USA.
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Yamasue M, Nureki SI, Ushijima R, Mukai Y, Goto A, Kadota JI. Sarcoidosis Presenting as Bilateral Vocal Cord Paralysis due to Bilateral Vagal Nerve Involvement. Intern Med 2016; 55:1229-33. [PMID: 27150886 DOI: 10.2169/internalmedicine.55.5441] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/06/2022] Open
Abstract
We herein report a rare case of sarcoidosis presenting as bilateral vocal cord paralysis due to bilateral vagal nerve involvement. A 72-year-old woman with uveitis of the left eye complained of hoarseness and aspiration due to bilateral vocal cord paralysis. An endobronchial needle aspiration biopsy specimen of the mediastinal lymph nodes showed non-caseating epithelioid cell granuloma. Total protein and cell concentrations in the cerebrospinal fluid were increased. We diagnosed her to have sarcoidosis with bilateral vagal nerve involvement. Corticosteroid therapy improved her symptoms of hoarseness and aspiration. Sarcoidosis should therefore be taken into consideration as a potential cause of bilateral vocal cord paralysis.
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Affiliation(s)
- Mari Yamasue
- Department of Respiratory Medicine and Infectious Diseases, Oita University Faculty of Medicine, Japan
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35
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[Management of uveomeningitis in internal medicine: Proposal for a diagnostic work-up]. Rev Med Interne 2015; 37:25-34. [PMID: 26541836 DOI: 10.1016/j.revmed.2015.09.009] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/25/2015] [Revised: 07/03/2015] [Accepted: 09/26/2015] [Indexed: 01/14/2023]
Abstract
Uveomeningitis relates to an inflammatory state extending from iris and ciliary bodies to the choroid behind the eye. Because of a close contact between eye and brain, and barrier disruption, the inflammation can spread into the central nervous system (CNS). We review the clinical manifestations of uveitis, which are known to provide helpful clues to the diagnosis and describe the infectious, inflammatory, and neoplastic conditions classically associated with the uveomeningitis. Inflammatory or auto-immune diseases are probably the most common clinically recognized causes of uveomeningitis associated with a significant pleiocytosis. These entities often cause inflammation of various tissues in the body, including ocular structures and the meninges (i.e., sarcoidosis, Behçet's disease, and Vogt-Koyanagi-Harada syndrome). The association of an infectious uveitis with an acute or a chronic meningo-encephalitis is unusual but occasionally the eye examination may suggest an infectious etiology or even a specific organism responsible for an uveomeningitis. One should consider the diagnosis of primary ocular-CNS lymphoma in patients of 40 years of age or older with bilateral uveitis, especially with prominent vitritis, showing poor response to corticosteroid therapy. Finally, an algorithm for the diagnostic approach of uveomeningitis is proposed.
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Abstract
Corticosteroids are the drug of choice for the treatment of sarcoidosis. Because the natural course of sarcoidosis may be self-limiting and/or cause no long-term harm, treatment is not mandatory. Corticosteroids are usually effective for all forms of sarcoidosis, and they work quickly. However, because of the potential toxicities of corticosteroids, alternative medications often need to be considered. Efforts should be made to minimize the corticosteroid dose while keeping the risk of toxicity as low as possible. This article outlines the indications for corticosteroid therapy for sarcoidosis, discusses various dosing regimens, and suggests when alternative corticosteroid agents should be considered.
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Yacoub HA, Al-Qudah ZA, Souayah N. Cranial neuropathies in sarcoidosis. World J Ophthalmol 2015; 5:16-22. [DOI: 10.5318/wjo.v5.i1.16] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/22/2014] [Revised: 09/19/2014] [Accepted: 11/10/2014] [Indexed: 02/06/2023] Open
Abstract
Sarcoidosis is a multisystem, chronic inflammatory disease that is characterized by the development of non-caseating granulomas in multiple body tissues and organ systems. Neurological complications of systemic sarcoidosis include peripheral and cranial neuropathies, myopathies, seizures, gait dysfunction, and cognitive decline. Because sarcoidosis has a predilection to involve the basilar meninges, cranial neuropathy is the most prevalent neurological deficit seen when the nervous system is involved. Sarcoidosis cranial neuropathy may occur at different stages of the disease and even as the initial clinical manifestation of central nervous system involvement. Attributing a cranial neuropathy to sarcoidosis can be challenging, particularly in the setting of normal imaging studies. In this review, cranial neuropathies in sarcoidosis are discussed in detail.
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Wilmshurst JM, Ouvrier RA. Neuropathies Secondary to Systemic Disorders. NEUROMUSCULAR DISORDERS OF INFANCY, CHILDHOOD, AND ADOLESCENCE 2015:418-430. [DOI: 10.1016/b978-0-12-417044-5.00022-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/05/2025]
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Wegener S, Linnebank M, Martin R, Valavanis A, Weller M. Clinically Isolated Neurosarcoidosis: A Recommended Diagnostic Path. Eur Neurol 2014; 73:71-7. [DOI: 10.1159/000366199] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/25/2014] [Accepted: 07/29/2014] [Indexed: 11/19/2022]
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Overview of neurosarcoidosis: recent advances. J Neurol 2014; 262:258-67. [PMID: 25194844 PMCID: PMC4330460 DOI: 10.1007/s00415-014-7482-9] [Citation(s) in RCA: 72] [Impact Index Per Article: 6.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2014] [Revised: 08/26/2014] [Accepted: 08/26/2014] [Indexed: 01/10/2023]
Abstract
Sarcoidosis (SA) is a granulomatous, multisystem disease of unknown etiology. Most often the disease affects lungs and mediastinal lymph nodes, but it may occur in other organs. Neurosarcoidosis (NS) more commonly occurs with other sarcoidosis forms, in 1 % of cases it involves only nervous system. Symptomatic NS occurs but on autopsy study up to 25 % of cases are confirmed. NS can affect central nervous system: the brain, spinal cord and peripheral nerves, and muscles. The diagnosis of neurosarcoidosis facilitates diagnostic criteria: histopathological, imaging and cerebrospinal fluid examination, and clinical symptoms. At present, there are no set standards for treatment of patients suffering from NS. Early therapy of symptomatic patients is recommended. Corticosteroids still are the first line of treatment for NS patients. In cases of steroids resistance, lack of their effectiveness or existence of contraindication to their use, immunosuppressant treatment is recommended. The latest NS algorithm with immunosuppressive treatment is discussed.
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Sehgal VN, Riyaz N, Chatterjee K, Venkatash P, Sharma S. Sarcoidosis as a systemic disease. Clin Dermatol 2014; 32:351-63. [DOI: 10.1016/j.clindermatol.2013.11.002] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/24/2022]
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Cho TA, Mckendall RR. Clinical approach to the syndromes of viral encephalitis, myelitis, and meningitis. HANDBOOK OF CLINICAL NEUROLOGY 2014; 123:89-121. [PMID: 25015482 DOI: 10.1016/b978-0-444-53488-0.00004-3] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Affiliation(s)
- Tracey A Cho
- Department of Neurology, Harvard Medical School and Neuro-ID Program, Massachusetts General Hospital, Boston, MA, USA
| | - Robert R Mckendall
- Departments of Neurology and Microbiology & Immunology, University of Texas Medical Branch, Galveston, TX, USA.
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Twilt M, Benseler SM. Childhood inflammatory brain diseases: pathogenesis, diagnosis and therapy. Rheumatology (Oxford) 2013; 53:1359-68. [PMID: 24324213 DOI: 10.1093/rheumatology/ket398] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/14/2022] Open
Abstract
Inflammatory brain diseases (IBrainDs) are a leading cause of devastating neurological deficits or neuropsychiatric syndromes in previously healthy children. The spectrum is expanding rapidly and new disease entities have been discovered in the last decade. IBrainD can occur as a primary disease or may occur secondary to an underlying cause. This review focuses on the clinical presentation, diagnostic features, pathology and histology characteristics and treatment of the primary childhood IBrainDs.
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Affiliation(s)
- Marinka Twilt
- Division of Rheumatology, Department of Paediatrics and Institute of Child Health Evaluative Sciences, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.Division of Rheumatology, Department of Paediatrics and Institute of Child Health Evaluative Sciences, Research Institute, Hospital for Sick Children, Toronto, ON, Canada
| | - Susanne M Benseler
- Division of Rheumatology, Department of Paediatrics and Institute of Child Health Evaluative Sciences, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.Division of Rheumatology, Department of Paediatrics and Institute of Child Health Evaluative Sciences, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.
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Wengert O, Rothenfusser-Korber E, Vollrath B, Bohner G, Scheibe F, Otto C, Hofmann J, Angstwurm K, Ruprecht K. Neurosarcoidosis: Correlation of cerebrospinal fluid findings with diffuse leptomeningeal gadolinium enhancement on MRI and clinical disease activity. J Neurol Sci 2013; 335:124-30. [DOI: 10.1016/j.jns.2013.09.008] [Citation(s) in RCA: 59] [Impact Index Per Article: 4.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/03/2013] [Revised: 09/02/2013] [Accepted: 09/05/2013] [Indexed: 12/19/2022]
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Anand G, Sin FE, Soilleux E, Chandra J, Piddington K, Quaghebeur G, Wilkinson N, Zaiwalla Z, Kennett R, McShane T. Isolated paediatric neurosarcoidosis presenting as epilepsia partialis continua: a case report and review of literature. Eur J Paediatr Neurol 2013; 17:429-36. [PMID: 23685039 DOI: 10.1016/j.ejpn.2013.03.005] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/31/2012] [Accepted: 03/15/2013] [Indexed: 10/26/2022]
Abstract
Isolated paediatric neurosarcoidosis (IPN) is exceptionally rare and only seven cases have been reported so far in the literature. We report the clinical and radiological profile of a 7 year-old boy with epilepsia partialis continua (EPC) who was initially thought to have Acute Disseminated Encephalomyelitis (ADEM), but was subsequently found to have isolated neurosarcoidosis. Additionally, we performed a literature search on Medline and Embase and secondary sources of data such as reference list of articles reviewed. Whilst cranial neuropathy is the commonest presenting feature in adults with neurosarcoidosis, paediatric patients are more likely to present with seizures. Diagnosis presents a clinical challenge as a result of its protean manifestations. Due to its rarity, there remains a lack of evidence base to inform the best choice of treatment for these children. Our patient was successfully treated with a combination of various immunomodulants.
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Affiliation(s)
- Geetha Anand
- Department of Paediatric Neurology, John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK.
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Abstract
OPINION STATEMENT Neurosarcoidosis can involve either the central nervous system (CNS), the peripheral nervous system (PNS), or both. The clinical manifestations are varied and include cranial neuropathy, aseptic meningitis, hydrocephalus, headache, seizure, neuropsychiatric symptoms, neuroendocrine dysfunction, myelopathy, and peripheral neuropathy. Neurologic problems that develop in sarcoidosis patients should not be assumed to represent neurosarcoidosis, as they are often attributable to another cause. The diagnostic work up of neurosarcoidosis should include an evaluation for potential extra-neural involvement and histologic confirmation of sarcoidosis. If there is no appropriate extra-neurologic organ for biopsy, a biopsy from involved neural tissue needs to be considered. Biopsy of the dura and leptomeninges is less invasive than biopsy of the brain or spinal cord parenchyma. Gadolinium-enhanced magnetic resonance imaging (MRI) of the brain and spinal cord is the most sensitive test for neurosarcoidosis, while the diagnostic specificity of cerebrospinal fluid (CSF) analysis is limited. Corticosteroids are the mainstay of treatment for neurosarcoidosis. In general, oral corticosteroids are used for mild to moderate cases, while high-dose intravenous methylprednisolone is used in severe cases or refractory cases that fail to respond to oral corticosteroids. Immunomodulating and cytotoxic agents are often required for steroid-refractory neurosarcoidosis or for patients who develop significant corticosteroid adverse effects. Methotrexate is used as a first-line corticosteroid sparing agent. Tumor necrosis factor-alpha inhibitors, including infliximab, are effective for refractory neurosarcoidosis. Cyclophosphamide is also used for refractory neurosarcoidosis patients, but, because of the drug's significant toxicity, it is usually reserved for severe cases that have failed oral therapies when tumor necrosis factor alpha antagonists cannot be obtained. In addition to anti-granulomatous therapy, treatment is frequently required for neurosarcoidosis-associated conditions, such as epilepsy and neuroendocrine dysfunction. Surgical intervention is indicated for life threatening complications such as hydrocephalus, steroid-refractory spinal cord compression, or mass lesions causing increased intracranial pressure.
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Affiliation(s)
- Kenkichi Nozaki
- Division of Neurology, Department of Neurosciences, Medical University of South Carolina, 96 Jonathan Lucas Street, Suite 301 CSB, Charleston, SC, 29425, USA,
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Kasliwal MK, Harbhajanka A, Nag S, O’Toole JE. Isolated spinal neurosarcoidosis: An enigmatic intramedullary spinal cord pathology-case report and review of the literature. JOURNAL OF CRANIOVERTEBRAL JUNCTION AND SPINE 2013; 4:76-81. [PMID: 24744567 PMCID: PMC3980561 DOI: 10.4103/0974-8237.128536] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/24/2022] Open
Abstract
Isolated spinal cord neurosarcoidosis (NS) in the absence of systemic disease or intracranial involvement is exceptionally rare. Adjunctive laboratory tests though useful may not be reliable and the absence of any pathognomonic radiological features makes the diagnosis difficult. As spinal cord NS may be a presenting feature of systemic sarcoidosis which may be occult on routine workup, (18)F-fluorodeoxyglucose-positron emission tomography (FDG-PET) may be of value in unraveling this systemic involvement avoiding biopsying the spinal cord. A case of truly isolated NS is described with review of literature on this enigmatic pathology. Long segment intramedullary signal changes with focal parenchymal along with dural/meningeal enhancement in the absence of significant cervical stenosis in a young patient of northern European or African-American decent is very suggestive of NS and although may be presumably treated with steroids; there should be a low threshold for spinal cord biopsy especially in the absence of response to steroids to confirm isolated spinal cord NS in a patient with clinical neurological deterioration.
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Affiliation(s)
- Manish K. Kasliwal
- Department of Neurosurgery, RUSH University Medical Center, Chicago, Illinois, USA
| | - Aparna Harbhajanka
- Department of Pathology, RUSH University Medical Center, Chicago, Illinois, USA
| | - Sukriti Nag
- Department of Pathology, RUSH University Medical Center, Chicago, Illinois, USA
| | - John E. O’Toole
- Department of Neurosurgery, RUSH University Medical Center, Chicago, Illinois, USA
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Mijajlovic M, Mirkovic M, Mihailovic-Vucinic V, Aleksic V, Covickovic-Sternic N. Neurosarcoidosis: two case reports with multiple cranial nerve involvement and review of the literature. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2013; 158:662-7. [PMID: 23817300 DOI: 10.5507/bp.2013.047] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/24/2012] [Accepted: 06/06/2013] [Indexed: 12/31/2022] Open
Abstract
BACKGROUND Involvement of the central nervous system is registered in a relatively small number of patients with sarcoidosis. In this article we present two cases with various neurological symptoms that fulfill criteria for neurosarcoidosis (NS). In addition, we review the literature on NS with special attention to isolated cranial nerve involvement. METHODS AND RESULTS First patient: Neurological examination identified multiple cranial neuropathy, moderate right-sided hemiparesis, polyradiculoneuritis of the lower limbs and positive meningeal signs. Laboratory tests showed serum and cerebrospinal fluid (CSF) inflammatory abnormalities, with increased values of the angiotensin-converting enzyme (ACE). CSF analysis also showed presence of 9 oligoclonal IgG bands. Brain and spine magnetic resonance imaging (MRI) revealed diffuse meningopathy, and focal granulomatous lesion in the body of the L5 vertebra. Lung sarcoidosis was confirmed by additional diagnostic procedures. The patient was treated with Methylprednisolone and a tapering course of oral Prednisone, which reduced the pain in the back and legs and improved the strength of the right leg. However, the other neurological deficiencies remained. After confirming lung sarcoidosis, the patient received Methotrexate in addition to Prednisone but during the following 2 years the patient's condition progressively worsened and ended in death. Second patient: Neurological findings showed weakness of the right n. oculomotorius and the right n. trochlearis, as well as the right-side face weakness. We found raised level of the ACE in serum and CSF. Thorax high-definition computed tomography (HDCTT) showed ribbon-like domains of discrete changes in the pulmonary parenchyma. MRI of the brain showed multiple white matter lesions. This patient also received Methylprednisolone followed by Prednisone, and after two months, ocular motility normalized. CONCLUSION The diagnosis of NS is always a challenge. For this rerason definitive diagnosis requires the exclusion of other causes of neuropathy. Multiple cranial neuropathies should always arouse suspicion of NS.
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Affiliation(s)
- Milija Mijajlovic
- Neurology Clinic, Clinical Center of Serbia and School of Medicine, University of Belgrade, Serbia
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