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1.
Neurol India ; 67(3): 783-786, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31347555

RESUMO

Demyelination, neurofibrillary tangles, and axonal spheroids are neuropathological features rarely encountered in infantile form of Niemann-Pick disease type C compared to swollen neurons and neuronal loss which are more commonly seen. We describe clinico-pathological findings in an autopsy case of an infant who died of suspected inborn error of metabolism. At autopsy, storage cells of Niemann-Pick type were observed in plenty in spleen and lymph nodes, and sparsely in liver and brain. Preterminally, the child also developed fungal meningitis with minimal boderzone encephalitis. The neuropathological findings are unique and have been illustrated in detail.Congenital anomaly of the urogenital system was an incidental associated finding.


Assuntos
Encéfalo/patologia , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/patologia , Doença de Niemann-Pick Tipo C/diagnóstico , Doença de Niemann-Pick Tipo C/patologia , Encéfalo/diagnóstico por imagem , Doenças Desmielinizantes/complicações , Humanos , Lactente , Masculino , Doença de Niemann-Pick Tipo C/complicações
3.
Dev Med Child Neurol ; 61(11): 1281-1288, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-30993677

RESUMO

The last two decades witnessed significant advances in the treatment of acquired demyelinating disorders: thirteen new agents have been approved for the treatment of multiple sclerosis in adults by the European Medicines Agency and US Food and Drug Administration in the last twenty years. Although the long-term efficacy and safety profiles of some new drugs are still being assessed in paediatric MS, clinicians may have to use them in the management of paediatric onset MS resistant to first-line medications, based on results obtained in adult-onset disease. This review summarizes the current approach to treatment in children with demyelinating syndromes. WHAT THIS PAPER ADDS: Serological markers affect management in paediatric demyelinating diseases. Antibodies against aquaporin-4 and myelin oligodendrocyte glycoprotein should be tested in children with acute demyelinating disease. New therapeutic agents currently in trial for pediatric disease should be used with close follow-up.


Assuntos
Doenças Desmielinizantes/tratamento farmacológico , Aquaporina 4/imunologia , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/imunologia , Humanos , Glicoproteína Mielina-Oligodendrócito/imunologia , Fatores de Risco , Testes Sorológicos , Resultado do Tratamento
4.
Cerebellum ; 18(4): 673-675, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31028519

RESUMO

Separating the etiologies of an acute vestibular syndrome (AVS) of central origin is a clinical challenge; the common causes include (1) stroke of the brainstem/cerebellum and (2) demyelinating disorders such as multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). Overshadowed by the vascular etiologies, the literature describing AVS due to demyelinating disorders has been growing through the last decade. The discovery of IgG-NMO, a specific pathogenic antibody directed against the astrocytic water channel aquaporin-4 (AQP4), has improved the differential diagnoses between MS and NMOSD. AQP4 is particularly expressed in ependymal/subependymal astrocytes and glia limitans astrocyte processes, including around the fourth ventricle. Adding a clinical biomarker to distinguish MS and NMOSD in AVS patients, as reported in this issue, will be of great clinical value.


Assuntos
Fossa Craniana Posterior/patologia , Doenças Desmielinizantes/diagnóstico , Doenças Vestibulares/diagnóstico , Biomarcadores , Doenças Desmielinizantes/patologia , Movimentos Oculares , Humanos , Neuromielite Óptica/diagnóstico , Neuromielite Óptica/patologia , Doenças Vestibulares/patologia
5.
Ann Clin Transl Neurol ; 6(2): 392-396, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30847372

RESUMO

Our objective was to examine the brain biopsies by histopathology and investigate the prognosis of patients with myelin oligodendrocyte glycoprotein antibody-associated demyelinating pseudotumor. The clinical, MRI, and histological features of two patients with myelin oligodendrocyte glycoprotein antibody-associated demyelinating pseudotumor were reviewed. Both patients were treated with steroid plus rituximab and followed up. The brain biopsies of both cases revealed T cells, macrophages, and complement-mediated demyelination, which was in accord with multiple sclerosis-like pathology. Moreover, both cases showed favorable response to steroid plus rituximab therapy. Our cases add a new variant to the myelin oligodendrocyte glycoprotein-encephalomyelitis spectrum, which favorably responds to immunotherapy.


Assuntos
Autoanticorpos/efeitos adversos , Doenças Desmielinizantes/induzido quimicamente , Glicoproteína Mielina-Oligodendrócito/metabolismo , Malformações do Sistema Nervoso/patologia , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/patologia , Encefalomielite/tratamento farmacológico , Encefalomielite/patologia , Humanos , Fatores Imunológicos/metabolismo , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/tratamento farmacológico , Esclerose Múltipla/patologia , Glicoproteína Associada a Mielina/metabolismo , Malformações do Sistema Nervoso/tratamento farmacológico , Oligodendroglia/efeitos dos fármacos , Oligodendroglia/metabolismo
6.
Mult Scler Relat Disord ; 28: 250-255, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30634105

RESUMO

BACKGROUND: We aimed to evaluate the role of autonomic nervous system (ANS) abnormalities on disease activity (relapses and new MRI lesions) and disease progression in people with clinically isolated syndrome (pwCIS). METHODS: Out of 121 consecutive pwCIS, data on disease activity and progression after 2.9 (1.4-4.1) years of follow-up, was available for 94 pwCIS. Baseline characteristics included MRI parameters, Composite Autonomic System Score-31 (COMPASS-31), Composite Autonomic Scoring Scale, and supine and standing levels of epinephrine and norepinephrine. RESULTS: Univariable logistic regression analysis revealed three predictors for occurrence of new relapse, COMPASS-31 > 7.32, total number of T2 lesions > 3 and decreasing supine level of epinephrine. The Kaplan-Meier survival analysis showed that patients with COMPASS-31 > 7.32 have statistically significant lower probability that they will be relapse free (p = 0.013). It has also showed that the relative risk reduction for occurrence of new relapse in participants with COMPASS < 7.32 was 46%. The multivariable regression model confirmed that COMPASS-31 > 7.32 and total number of T2 lesions > 3 increase the likelihood and the increasing supine level of epinephrine reduces the likelihood for a relapse. Finally, results of the Cox regression analysis showed, that after controlling for age, sex, total number of T2 lesions > 3 and supine level of epinephrine, the hazard for occurrence of new relapse for participants with COMPASS-31 > 7.32 is 2.7 times that of participants with COMPASS-31 < 7.32. CONCLUSION: This study provides evidence that ANS is an important contributor to development of disease activity in pwCIS.


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/fisiopatologia , Epinefrina/sangue , Norepinefrina/sangue , Adulto , Biomarcadores/sangue , Encéfalo/diagnóstico por imagem , Progressão da Doença , Feminino , Seguimentos , Humanos , Masculino , Postura , Prognóstico , Medula Espinal/diagnóstico por imagem
7.
Mult Scler Relat Disord ; 28: 309-312, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30665072

RESUMO

BACKGROUND: Few data are available regarding patients with very late-onset inflammatory demyelinating events. (VLO-IDE). OBJECTIVES: The aim of this study was to describe the clinical, biological, and radiological characteristics and aetiological diagnosis of very late first inflammatory demyelinating events of the central nervous system. METHODS: We conducted a national descriptive retrospective multicentre study on a case series of patients aged >70 years at the time of VLO-IDE. Patients were recruited from a national call on behalf of the 'Société Francophone de la Sclérose en Plaques' (French Multiple Sclerosis Society). RESULTS: Twenty-five patients were referred (F:M sex ratio 2.1:1). The most frequent clinical impairment was a spinal cord deficit (23/25), usually severe (disability score, median EDSS 4.5 [2-9.5]). Spinal cord lesions were usually extensive, spanning at least three segments (11/25), and large brain lesions were also observed (lesions >20 mm in 6/25). The final aetiological diagnoses comprised multiple sclerosis (9/25), neuromyelitis optica spectrum disorders (7/25), neurosystemic lupus erythematosus (2/25), transverse myelitis without aetiological diagnosis (6/25) and optic neuritis (1/25). CONCLUSIONS: This study highlights a particular phenotype of first clinical inflammatory demyelinating events in predominantly female patients aged >70 years who have severe motor impairment with common longitudinal extensive myelitis and large and common very active radiological inflammatory lesions. Neuromyelitis optica spectrum disorders seem overrepresented.


Assuntos
Doenças do Sistema Nervoso Central/epidemiologia , Doenças Desmielinizantes/epidemiologia , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Encéfalo/diagnóstico por imagem , Doenças do Sistema Nervoso Central/diagnóstico , Doenças do Sistema Nervoso Central/terapia , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/terapia , Feminino , Seguimentos , Humanos , Inflamação/diagnóstico , Inflamação/epidemiologia , Inflamação/terapia , Masculino , Estudos Retrospectivos , Medula Espinal/diagnóstico por imagem
8.
Neurol Neuroimmunol Neuroinflamm ; 6(2): e528, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30697581

RESUMO

Objective: To compare the diagnostic accuracy of the McDonald 2017 vs the McDonald 2010 criteria to predict a second attack of MS (clinically definite MS [CDMS]) at the first attack of acquired demyelinating syndromes (ADS). Methods: One hundred sixty-four children (aged <18 years) with an incident attack of ADS were included in a prospective multicenter study between June 2006 and December 2016. Brain (and spinal if available) MRI was performed ≤3 months after symptom onset. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were compared at baseline between the 2010 and 2017 criteria. Results: Among the 164 patients, 110 patients (67%) presented without encephalopathy (ADS-, female 63%; median age 14.8 years, IQR 11.3-16.1years) and 54 (33%) with encephalopathy (acute disseminated encephalomyelitis [ADEM], female 52%; median age 4.0 years, IQR 2.6-6.1 years). Of the 110 ADS- patients, 52 (47%) were diagnosed with CDMS within a median follow-up of 4.5 years (IQR 2.6-6.7 years). The sensitivity was higher for the 2017 criteria than for the 2010 criteria (83%; 95% CI 67-92, vs 49%; 95% CI 33-65; p < 0.001), but the specificity was lower (73%; 95% CI 59-84 vs 87%; 95% CI 74-94, p = 0.02). At baseline, 48 patients fulfilled the 2017 criteria compared with 27 patients when using the 2010 criteria. The results for children aged <12 years without encephalopathy were similar. In patients with ADEM, 8% fulfilled the 2010 criteria and 10% the 2017 criteria at baseline but no patient fulfilled the criteria for CDMS. Conclusions: The McDonald 2017 criteria are more sensitive than the McDonald 2010 criteria for predicting CDMS at baseline. These criteria can also be applied in children aged <12 years without encephalopathy but not in children with ADEM. Classification of evidence: This study provides Class II evidence that in children with ADS, the 2017 McDonald criteria are more sensitive but less specific than the 2010 McDonald criteria for predicting CDMS.


Assuntos
Doenças Desmielinizantes/diagnóstico , Esclerose Múltipla/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
9.
Amyloid ; 26(1): 15-23, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30688105

RESUMO

OBJECTIVE: To elucidate the electrophysiological demyelinating features in patients with hereditary ATTR amyloidosis that may lead to a misdiagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: In 102 patients with hereditary ATTR amyloidosis (85 Val30Met and 17 non-Val30Met; 37 and 65 from endemic and non-endemic areas, respectively), results of motor nerve conduction studies (MNCSs) with a 2-Hz low-cut filter in the unilateral ulnar and tibial nerves were retrospectively investigated to assess whether each MNCS parameter demonstrated demyelinating features that fulfil the European Federation of Neurological Societies/Peripheral Nerve Society electrodiagnostic (EFNS/PNS EDX) criteria for CIDP. RESULTS: Thirteen patients with low compound muscle action potential (CMAP) amplitude in the tibial nerve (0.7 ± 0.7 mV) and prolonged distal CMAP duration in the ulnar nerve satisfied the definite EFNS/PNS EDX criteria for CIDP. Abnormal temporal dispersion and prolongation of distal latency in the tibial nerve were observed in 5 of 13 patients. However, only one of the 13 patients presented with the reduction of motor conduction velocity in each nerve. No patient exhibited conduction block in any nerve. CONCLUSION: Patients with hereditary ATTR amyloidosis occasionally show electrophysiological demyelinating features without conduction block following severe axonal degeneration.


Assuntos
Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/genética , Doenças Desmielinizantes/diagnóstico , Mutação , Pré-Albumina/genética , Adulto , Idoso , Neuropatias Amiloides Familiares/complicações , Doenças Desmielinizantes/etiologia , Doenças Desmielinizantes/fisiopatologia , Diagnóstico Diferencial , Eletrofisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico
10.
Neurol Sci ; 40(1): 75-80, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30255488

RESUMO

BACKGROUND AND OBJECTIVES: A few studies have found that low scores on self-rated health and quality of life measures are associated with following worsening disability in multiple sclerosis (MS). We wanted to estimate the association between self-rated quality of life scores among patients with clinically isolated syndrome (CIS) and the risk of subsequent conversion to definite MS. METHODS: One hundred sixty-two patients from the GERONIMUS cohort with a symptom or sign suggestive of MS and without a definite diagnosis of MS at the time of inclusion were asked to evaluate their health-related quality of life according to MSQoL-54 scale. They were clinically assessed and mood and depression scales were applied. The association between the scores of these scales and the risk of converting to definite MS during a 5-year follow-up was estimated using the Cox- proportional hazard regression model. RESULTS: Quality of life at examination was significantly lower compared to those of an age- and sex-adjusted general Italian population. During the follow-up, 116 patients (72%) converted to definite MS. No significant predictive effects were found for the summary scales of MSQol-54 or other scales. The estimates did not change after adjusting for age, sex, BMI, education, MRI findings, Expanded Disability Status Scale (EDSS) score, and treatment at time of examination. CONCLUSION: Persons with CIS in this cohort reported reduced self-rated quality of life compared to the general population, but variation in these scores was not associated with subsequent conversion from CIS to clinical definite MS.


Assuntos
Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/psicologia , Progressão da Doença , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/psicologia , Qualidade de Vida/psicologia , Adulto , Estudos de Coortes , Feminino , Seguimentos , Humanos , Itália/epidemiologia , Masculino , Estudos Prospectivos , Fatores de Risco , Autoimagem
11.
J Neurol ; 266(1): 148-156, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30446963

RESUMO

BACKGROUND AND AIM: Optic neuritis (ON) is a frequent manifestation of multiple sclerosis (MS), traditionally diagnosed clinically and by visually evoked potentials (VEP). However, ON can also be assessed by MRI. Here we compare the diagnostic performance of 3D-double inversion recovery-MRI (3D-DIR) and VEPs in patients with definite MS or clinically isolated syndrome (CIS). METHODS: 39 patients and 17 healthy controls were studied. Whole-brain-3D-DIR images (3T) were independently assessed for DIR-hyperintense optic nerve lesions (DHLs) by two neuroradiologists, and results related to quantitative VEP-parameters. RESULTS: Interrater concordance for DHLs was high (κ = 0.82). No DHLs were observed in controls. In patients, abnormal VEPs, i.e. prolonged latencies, diminished amplitudes or abnormal latency or amplitude differences (re contralateral nerve) of the P100-component, were observed in 22, and DHLs in 32 of 78 optic nerves, the latter including 11 nerves with normal VEPs, 10 without clinical signs or history of ON, and 6 with both normal VEPs and no clinical evidence for ON. Using either abnormal VEPs and/or presence of DHLs and/or clinical evidence for ON as a compound reference criterion of optic nerve affection, sensitivity was significantly higher for 3D-DIR than for VEPs (91%, 95%-CI 77-98% vs. 63%, 95%-CI 45-79%, respectively, p = 0.006). CONCLUSION: DHLs are highly specific for optic nerve pathology. In the context of MS, 3D-DIR-MRI is a suitable tool to reveal acute or chronic optic nerve lesions and more sensitive than VEPs. The significance of optic nerve involvement in the diagnostic classification of CIS vs. definite MS requires further study.


Assuntos
Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/fisiopatologia , Potenciais Evocados Visuais , Imagem por Ressonância Magnética/métodos , Nervo Óptico/diagnóstico por imagem , Nervo Óptico/fisiopatologia , Adolescente , Adulto , Idoso , Encéfalo/diagnóstico por imagem , Eletrodiagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto Jovem
12.
Neurol Sci ; 40(4): 861-864, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30523547

RESUMO

BACKGROUND: The recently released International Classification of Headache Disorders-3rd edition (1) includes migraine aura status (MAS) among the complications of migraine (A1.4.5). It is defined as the recurrence of at least three auras over a period of 3 days, in a patient suffering from migraine fulfilling criteria for 1.2 Migraine with aura (MA) or one of its subtypes. CASE SERIES: We describe three cases of MAS secondary to an organic brain lesion: a migrainous infarction, an acute ischemic stroke secondary to a vertebral artery dissection, and an inflammatory demyelinating disease of the central nervous system. CONCLUSIONS: In front of a patient with a MAS, an organic lesion of the brain must be suspected, until a complete negative vascular and neuroradiological diagnostic workup has been performed. A spectrum of underlying pathologies (vascular or demyelinating diseases, epileptic or degenerative conditions) may cause a MAS-like clinical onset. The variability of aura symptoms may result in a real diagnostic challenge.


Assuntos
Isquemia Encefálica/complicações , Doenças Desmielinizantes/complicações , Enxaqueca com Aura/etiologia , Acidente Vascular Cerebral/complicações , Adulto , Infarto Encefálico/complicações , Infarto Encefálico/diagnóstico , Infarto Encefálico/patologia , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/patologia , Doenças Desmielinizantes/diagnóstico , Doenças Desmielinizantes/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/patologia
13.
Ir J Med Sci ; 188(1): 277-282, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29693233

RESUMO

BACKGROUND: Acute optic neuritis (ON) is often the first manifestation of multiple sclerosis which is particularly common in Ireland. Despite the specific clinical details regarding investigations and management of ON provided by the Optic Neuritis Treatment Trial (ONTT), international surveys have shown that there are still notable differences in the management of ON between neurologists and ophthalmologists. AIM: To compare the investigation and treatment of acute optic neuritis between ophthalmologists and neurologists in Ireland METHOD: A survey consisting of a case scenario and questions regarding treatment and investigations of a patient with ON was emailed to ophthalmology consultants, trainees and medical ophthalmologists registered with the Irish College of Ophthalmologists and to neurology consultants and registrars registered with the Irish Institute of Clinical Neuroscience. RESULTS: One hundred sixty recipients responded out of 350 (46%). The majority of the neurologists would initiate steroid treatment regardless of the patient's vision (75%), treat with 1 g IV methylprednisolone (100%) for 5 days (57%), perform an MRI brain and orbits with contrast (92%) and multiple laboratory tests (96%). In contrast, the ophthalmologists tended to initiate treatment depending on the patient's vision (48%), treat with 1 g IV methylprednisolone (97%) for 3 days instead of 5 days (93%), perform MRI brain and orbits with contrast (73%) and favour electrophysiology testing (73%) over laboratory testing (68%). CONCLUSIONS: Overall, most respondents would follow the ONTT guidelines regarding IV methylprednisolone. There was a significant difference in responses between the ophthalmologists and neurologists regarding who to treat, duration of treatment and appropriate investigations.


Assuntos
Doenças Desmielinizantes/tratamento farmacológico , Neurologistas/normas , Oftalmologistas/normas , Neurite Óptica/diagnóstico , Neurite Óptica/tratamento farmacológico , Padrões de Prática Médica/normas , Doença Aguda , Técnicas de Laboratório Clínico , Doenças Desmielinizantes/diagnóstico , Feminino , Glucocorticoides/uso terapêutico , Pesquisas sobre Serviços de Saúde , Humanos , Irlanda , Imagem por Ressonância Magnética , Masculino , Metilprednisolona/uso terapêutico , Esclerose Múltipla/tratamento farmacológico
14.
Neurol Neuroimmunol Neuroinflamm ; 6(1): e520, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30568998

RESUMO

Objective: We sought to develop molecular biomarkers of intrathecal inflammation to assist neurologists in identifying patients most likely to benefit from a range of immune therapies. Methods: We used Luminex technology and index determination to search for an inflammatory activity molecular signature (IAMS) in patients with inflammatory demyelinating disease (IDD), other neuroinflammatory diagnoses, and noninflammatory controls. We then followed the clinical characteristics of these patients to find how the presence of the signature might assist in diagnosis and prognosis. Results: A CSF molecular signature consisting of elevated CXCL13, elevated immunoglobulins, normal albumin CSF/serum ratio (Qalbumin), and minimal elevation of cytokines other than CXCL13 provided diagnostic and prognostic value; absence of the signature in IDD predicted lack of subsequent inflammatory events. The signature outperformed oligoclonal bands, which were frequently false positive for active neuroinflammation. Conclusions: A CSF IAMS may prove useful in the diagnosis and management of patients with IDD and other neuroinflammatory syndromes. Classification of evidence: This study provides Class IV evidence that a CSF IAMS identifies patients with IDD.


Assuntos
Doenças Desmielinizantes/líquido cefalorraquidiano , Doenças Desmielinizantes/diagnóstico , Mielite/líquido cefalorraquidiano , Mielite/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Albuminas/líquido cefalorraquidiano , Biomarcadores/líquido cefalorraquidiano , Quimiocina CXCL13/líquido cefalorraquidiano , Citocinas/líquido cefalorraquidiano , Doenças Desmielinizantes/complicações , Encefalite/líquido cefalorraquidiano , Encefalite/complicações , Encefalite/diagnóstico , Feminino , Humanos , Imunoglobulinas/líquido cefalorraquidiano , Masculino , Pessoa de Meia-Idade , Mielite/complicações , Adulto Jovem
16.
Acta Med Acad ; 47(2): 193-198, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30585071

RESUMO

OBJECTIVE: We present a case of relapsing tumefactive demyelination in a young female patient, that posed a real diagnostic challenge, with a heterogeneous clinical picture, atypical for multiple sclerosis (MS) presentation, and neuroradiological manifestations with a high suspicion of neoplastic diseases. CASE REPORT: An 18-year old female patient presented to our Neurosurgical Out-patients' Clinic with symptoms atypical for multiple sclerosis, unremarkable neurological deficit, one tumefactive lesion on MRI, followed by relapse and another two lesions within a period of six months. We decided to perform biopsy of the tumefactive lesion with compressive effect. Serological and clinical data were negative for MS, and the patient did not respond well to corticosteroid therapy. Fresh frozen tumor tissue aroused a strong suspicion of gemistocytic astrocytoma, so total resection was done, but the definitive pathohistological examination confirmed tumefactive demyelination. CONCLUSION: For clinicians, it is important to consider demyelinating disease in the differential diagnosis of a tumorlike lesion of the central nervous system, in order to avoid invasive and potentially harmful diagnostic procedures, especially in younger patients.


Assuntos
Neoplasias do Sistema Nervoso Central/patologia , Doenças Desmielinizantes/diagnóstico , Esclerose Múltipla/patologia , Adolescente , Doenças Desmielinizantes/patologia , Diagnóstico Diferencial , Feminino , Humanos , Imagem por Ressonância Magnética , Polirradiculoneuropatia/patologia , Recidiva
19.
Ideggyogy Sz ; 71(9-10): 321-329, 2018 Sep 30.
Artigo em Húngaro | MEDLINE | ID: mdl-30335264

RESUMO

The revolutionary progress of research in neuroimmu-nology has led to the introduction of disease modifying therapies in multiple sclerosis at the end of the last century. The International Panel on Diagnosis of Multiple Sclerosis originally proposed the 2001 McDonald criteria to facilitate the diagnosis of MS in patients with the first objective neurological symptom(s) suggesting demyelinating event, when magnetic resonance imaging is integrated with clinical and other paraclinical diagnostic methods. New terms have been introduced to substitute clinical information by MRI: dissemination in space - indicating a multifocal central demyelinating process and dissemination in time - indicating the development of new CNS lesions over time. The criteria for diagnosis of Multiple Sclerosis have continuously evolved, they were modified in 2005 and 2010 allowing for an earlier and more accurate diagnosis of MS over time, and they provided the most up-to-date guidance for clinicians and researchers. The last recommended revisions relied entirely on available evidence, and not on expert opinion thereby reducing the risk of the misdiagnosis. The 2017 McDonald criteria continue to apply primarily to patients experiencing a typical, clinically isolated syndrome. In this review, we provide an overview of the recent 2017 revisions to the criteria of dissemination in space and time with the importance of the presence of CSF-specific oligoclonal bands; keeping fully in mind that there is no better explanation for symptoms than diagnosis of MS. In the future, validation of the 2017 McDonald criteria will be needed in diverse populations. Further investigations are required on the value of new MRI approaches, on optic nerve involvement, on evoked potential and optical coherence tomography, in order to assess their possible contribution to diagnostic criteria.


Assuntos
Doenças Desmielinizantes/diagnóstico , Esclerose Múltipla/diagnóstico , Guias de Prática Clínica como Assunto , Erros de Diagnóstico , Humanos , Imagem por Ressonância Magnética
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