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1.
J Comput Assist Tomogr ; 44(1): 47-52, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31939881

RESUMO

PURPOSE: The discrimination between neuromyelitis optica (NMO)- and multiple sclerosis (MS)-related acute optic neuritis (ON) after the first presentation is difficult in clinical practice. Through a comparison with diffusion-weighted imaging using readout-segmented echo-planar imaging (RESOLVE-DWI), our aim was to determine the feasibility of diffusional kurtosis imaging (DKI) for differential diagnosis. MATERIALS AND METHODS: Orbital DKI and RESOLVE-DWI in a 3.0-T scanner were performed on 37 patients with acute ON (15 NMO-related and 22 MS-related). The mean kurtosis (MK), axial kurtosis (AK), radial kurtosis (RK), mean diffusivity (MD), and apparent diffusion coefficient (ADC) were calculated for quantitative analyses, and receiver operating characteristic curve analyses were also performed to determine their abilities to differentiate the 2 conditions. RESULTS: The intraclass correlation coefficients among observers were 0.842, 0.885, 0.828, 0.871, and 0.942 for MK, RK, AK, MD, and ADC, respectively, in the affected nerve group and 0.890, 0.840, 0.832, 0.934, and 0.941 in the unaffected nerve group. Regarding the comparisons of the DKI and RESOLVE-DWI parameters among the groups, the mean MK, RK, AK, MD, and ADC values were significantly lower in the affected groups (all, P < 0.001). Furthermore, the MK, RK, MD, and ADC values were significantly lower in the NMO-ON group than in the MS-ON group (P = 0.001, 0.002, 0.013, and <0.001, respectively), and no significant differences were found in the AK values (P = 0.064). In addition, establishing MK ≤ 0.843 as the diagnostic criterion for NMO-related acute ON provided the highest sensitivity (90.5%), whereas the highest specificity (91.3%) was obtained using RK ≤ 0.784 as the diagnostic criterion. CONCLUSIONS: Diffusional kurtosis imaging is helpful for differentiating NMO-related acute ON from MS-related acute ON, and it can achieve more agreeable sensitivity and specificity than RESOLVE-DWI in differential diagnosis.


Assuntos
Imagem de Difusão por Ressonância Magnética/métodos , Imagem de Tensor de Difusão/métodos , Esclerose Múltipla/diagnóstico por imagem , Neuromielite Óptica/diagnóstico por imagem , Neurite Óptica/etiologia , Adolescente , Adulto , Diagnóstico Diferencial , Estudos de Viabilidade , Feminino , Humanos , Masculino , Esclerose Múltipla/complicações , Neuromielite Óptica/complicações , Neurite Óptica/diagnóstico por imagem , Adulto Jovem
3.
Lakartidningen ; 1162019 Aug 13.
Artigo em Sueco | MEDLINE | ID: mdl-31429915

RESUMO

Neuromyelitis optica is an inflammatory CNS syndrome that is associated with serum aquaporin-4 immunoglobulin G antibodies (AQP4-IgG). According to the new diagnostic criteria the term NMO is replaced by the term NMOSD and for the first time criteria allow diagnosis in patients who have not experienced clinical involvement of either optic nerves or spinal cord. Area postrema, the emetic reflex center, may be a selective target of the disease. We report a case of a 74-year-old man who presented with intractable hiccups and vomiting. He underwent medical and surgical evaluation but the neurological consultation was delayed one month because these symptoms are usually not appreciated as the possible initial manifestation of NMOSD. Missing diagnosis at this early stage leads to a delay in the treatment and a risk of more severe manifestations, such as transverse myelitis.


Assuntos
Neuromielite Óptica/diagnóstico , Idoso , Aquaporina 4/imunologia , Soluço/etiologia , Humanos , Imunoglobulina G/sangue , Imagem por Ressonância Magnética , Masculino , Neuromielite Óptica/sangue , Neuromielite Óptica/complicações , Neuromielite Óptica/diagnóstico por imagem , Vômito/etiologia
4.
Mult Scler Relat Disord ; 34: 116-118, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31255987

RESUMO

Early administration of high-dose steroids and plasma exchange (PE) offers the best chance of treating neuromyelitis optica spectrum disease (NMOSD) attacks, but up to 20% of patients fail to respond. We report the case of a first devastating NMOSD attack leading to death despite optimal treatment. While receiving steroids during a bilateral blinding optic neuritis, this female patient suffered a severe attack involving the spinal cord and circumventricular organs (CVOs), including the pineal gland. Early adjunctive daily PE failed to prevent sudden death. AQP4-antibodies were strongly positive. To our knowledge, this is the first case of exceptionally severe monophasic NMOSD leading to full-blown lesions in all AQP4-expressing sites. Lesions of the periventricular ependyma and CVOs are highly exceptional and the involvement of the pineal gland, which is also a CVO, is novel. Moreover, the patient's condition continued to worsen until death, without any sign of recovery. We term this unexpected outcome the 'anti-Lazarus effect'. Although the mechanisms of resistance to treatment remain elusive, very early initiation of immunosuppressive drugs or adjunctive salvage therapies could be envisioned to manage these devastating attacks.


Assuntos
Aquaporina 4/imunologia , Neuromielite Óptica/imunologia , Neuromielite Óptica/terapia , Adulto , Órgãos Circunventriculares/diagnóstico por imagem , Órgãos Circunventriculares/imunologia , Evolução Fatal , Feminino , Humanos , Neuromielite Óptica/diagnóstico por imagem , Troca Plasmática , Recidiva , Índice de Gravidade de Doença
5.
Continuum (Minneap Minn) ; 25(3): 753-772, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31162315

RESUMO

PURPOSE OF REVIEW: This article discusses the prevalence, identification, and management of multiple sclerosis (MS)-related symptoms and associated comorbidities, including complications that can present at all stages of the disease course. RECENT FINDINGS: The impact of comorbidities on the outcome of MS is increasingly recognized. This presents an opportunity to impact the course and outcome of MS by identifying and treating associated comorbidities that may be more amenable to treatment than the underlying inflammatory and neurodegenerative disease. The identification of MS-related symptoms and comorbidities is facilitated by brief screening tools, ideally completed by the patient and automatically entered into the patient record, with therapeutic suggestions for the provider. The development of free, open-source screening tools that can be integrated with electronic health records provides opportunities to identify and treat MS-related symptoms and comorbidities at an early stage. SUMMARY: Identification and management of MS-related symptoms and comorbidities can lead to improved outcomes, improved quality of life, and reduced disease activity. The use of brief patient-reported screening tools at or before the point of care can facilitate identification of symptoms and comorbidities that may be amenable to intervention.


Assuntos
Gerenciamento Clínico , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/tratamento farmacológico , Neuromielite Óptica/diagnóstico por imagem , Neuromielite Óptica/tratamento farmacológico , Anticonvulsivantes/administração & dosagem , Carbamazepina/administração & dosagem , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/tratamento farmacológico , Disfunção Cognitiva/epidemiologia , Comorbidade , Depressão/diagnóstico por imagem , Depressão/tratamento farmacológico , Depressão/epidemiologia , Feminino , Humanos , Pessoa de Meia-Idade , Esclerose Múltipla/epidemiologia , Doenças Neurodegenerativas/diagnóstico por imagem , Doenças Neurodegenerativas/tratamento farmacológico , Doenças Neurodegenerativas/epidemiologia , Neuromielite Óptica/epidemiologia
6.
Continuum (Minneap Minn) ; 25(3): 793-814, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31162317

RESUMO

PURPOSE OF REVIEW: This article provides an up-to-date summary of the categories, diagnosis, and management of pediatric demyelinating disorders. RECENT FINDINGS: Understanding of the diverse spectrum of pediatric demyelinating disorders, including monophasic and multiphasic forms, has improved. Pediatric multiple sclerosis (MS) is the most common demyelinating disorder in children, and recent genetic and environmental risk research has clarified that pediatric MS is on the same continuum of disease as adult MS. Recent advances in the treatment of pediatric MS include clinical trials leading to regulatory agency-approved treatments. The identification of myelin oligodendrocyte glycoprotein and aquaporin-4 antibodies in children has been a major advance, allowing for appropriate treatment and management of these syndromes. SUMMARY: Antibody testing is now helping to define subtypes of pediatric demyelinating disorders, including myelin oligodendrocyte glycoprotein-seropositive and aquaporin-4-seropositive cases that are distinct from pediatric MS. Treatments for pediatric MS are being evaluated in clinical trials.


Assuntos
Aquaporina 4/líquido cefalorraquidiano , Glicoproteína Mielina-Oligodendrócito/líquido cefalorraquidiano , Neuromielite Óptica/líquido cefalorraquidiano , Neuromielite Óptica/diagnóstico por imagem , Adolescente , Criança , Doenças Desmielinizantes/líquido cefalorraquidiano , Doenças Desmielinizantes/diagnóstico por imagem , Doenças Desmielinizantes/tratamento farmacológico , Encefalomielite/líquido cefalorraquidiano , Encefalomielite/diagnóstico por imagem , Encefalomielite/tratamento farmacológico , Feminino , Humanos , Fatores Imunológicos/administração & dosagem , Ácido Micofenólico/administração & dosagem , Neuromielite Óptica/tratamento farmacológico
7.
Continuum (Minneap Minn) ; 25(3): 815-844, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31162318

RESUMO

PURPOSE OF REVIEW: This article reviews the clinical features, diagnostic approach, treatment, and prognosis of central nervous system inflammatory diseases that mimic multiple sclerosis (MS), including those defined by recently discovered autoantibody biomarkers. RECENT FINDINGS: The discovery of autoantibody biomarkers of inflammatory demyelinating diseases of the central nervous system (aquaporin-4 IgG and myelin oligodendrocyte glycoprotein IgG) and the recognition that, despite some overlap, their clinical phenotypes are distinct from MS have revolutionized this field of neurology. These autoantibody biomarkers assist in diagnosis and have improved our understanding of the underlying disease pathogenesis. This has allowed targeted treatments to be translated into clinical trials, three of which are now under way in aquaporin-4 IgG-seropositive neuromyelitis optica (NMO) spectrum disorder. SUMMARY: Knowledge of the clinical attributes, MRI findings, CSF parameters, and accompanying autoantibody biomarkers can help neurologists distinguish MS from its inflammatory mimics. These antibody biomarkers provide critical diagnostic and prognostic information and guide treatment decisions. Better recognition of the clinical, radiologic, and laboratory features of other inflammatory MS mimics that lack autoantibody biomarkers has allowed us to diagnose these disorders faster and initiate disease-specific treatments more expeditiously.


Assuntos
Fatores Imunológicos/administração & dosagem , Mielite Transversa/diagnóstico por imagem , Mielite Transversa/terapia , Neuromielite Óptica/diagnóstico por imagem , Neuromielite Óptica/terapia , Doenças do Sistema Nervoso Central/líquido cefalorraquidiano , Doenças do Sistema Nervoso Central/diagnóstico por imagem , Doenças do Sistema Nervoso Central/terapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/líquido cefalorraquidiano , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/terapia , Mielite Transversa/líquido cefalorraquidiano , Neuromielite Óptica/líquido cefalorraquidiano , Troca Plasmática/métodos , Rituximab/administração & dosagem
8.
J Clin Neurosci ; 66: 271-272, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31178306

RESUMO

Neuromyelitis optica spectrum disorder (NMOSD) has a wide disease spectrum and sometimes shows abnormal eye movement with brainstem manifestations. However, bilateral oculomotor nerve palsy with a midbrain lesion has never been reported in a patient with NMOSD. We describe a 61-year-old woman with progressive ptosis and diplopia. She displayed bilateral oculomotor nerve palsy and hypersomnia. Brain MRI demonstrated abnormal signal intensities in the midbrain and around the third ventricle and hypothalamus with a mild contrast enhancement. A cerebrospinal fluid study indicated elevated protein and pleocytosis. Because serum anti-aquaporin-4 IgG antibody was positive, the patient was diagnosed with neuromyelitis optica spectrum disorder with aquaporin-4 IgG. We report for the first time bilateral oculomotor nerve palsy as an initial manifestation in a patient with aquaporin-4 positive NMOSD.


Assuntos
Aquaporina 4/sangue , Autoanticorpos/sangue , Neuromielite Óptica/sangue , Neuromielite Óptica/diagnóstico por imagem , Doenças do Nervo Oculomotor/sangue , Doenças do Nervo Oculomotor/diagnóstico por imagem , Tronco Encefálico/diagnóstico por imagem , Feminino , Humanos , Mesencéfalo/diagnóstico por imagem , Pessoa de Meia-Idade , Neuromielite Óptica/complicações , Doenças do Nervo Oculomotor/complicações
9.
Mult Scler Relat Disord ; 32: 94-96, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31075495

RESUMO

Neuromyelitis optica spectrum disorder is an inflammatory demyelinating disease that is largely sporadic. Familial disease has been reported in one or two generations, although its basis remains unknown. We report here three subjects meeting diagnostic criteria for NMOSD in one family: a father and son, and the maternal aunt of the father. Anticipation, of 27 years, was apparent in transmission from father to son. Aquaporin-4 antibodies were observed in the aunt but not the father and son, nor in other family members. A putative pathogenic mutation in the NECL2 gene was not found in this pedigree. This first report of NMOSD in three generations of one family underlines the heterogeneity of familial NMOSD.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Neuromielite Óptica/diagnóstico por imagem , Neuromielite Óptica/genética , Adulto , Criança , Família , Feminino , Humanos , Masculino , Linhagem
10.
Mult Scler Relat Disord ; 32: 77-80, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31060025

RESUMO

Few cases reported the coexistence of tumors and neuromyelitis optica spectrum disorder (NMOSD), which is generally considered idiopathic. Here we describe a 61-year-old woman who developed anti-aquaporin-4 IgG positive myelitis with a pathologically-diagnosed lung adenocarcinoma and a radiologically-diagnosed intraductal papillary mucinous neoplasm. With corticosteroids and immunoglobulin in the acute phase and surgical resection of the lung adenocarcinoma, the patient recovered substantially. This case highlights the need for tumor screening in patients with NMOSD, especially those over 50 years old.


Assuntos
Adenocarcinoma de Pulmão/complicações , Adenocarcinoma de Pulmão/diagnóstico por imagem , Neuromielite Óptica/complicações , Neuromielite Óptica/diagnóstico por imagem , Neoplasias Intraductais Pancreáticas/complicações , Neoplasias Intraductais Pancreáticas/diagnóstico por imagem , Feminino , Humanos , Pessoa de Meia-Idade
11.
Mult Scler Relat Disord ; 32: 27-29, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31026608

RESUMO

Treatment of MOG Ab-associated disease is poorly standardized: several drugs have been employed, with variable results. A 50-year-old Caucasian male was admitted to hospital in 2009, with severe acute transverse myelitis. A brain and spinal cord MRI showed multiple demyelinating lesions and cerebrospinal fluid analysis revealed no oligoclonal bands (OCBs). A diagnosis of multiple sclerosis (MS) was made. He was treated with interferon-beta 1a, then with fingolimod, and finally with rituximab. All these treatments were ineffective: he experienced several spinal and brainstem relapses, with residual disability. Finally, an empirical therapy with IVIg was started. Calling into question the diagnosis of MS, we performed anti-MOG test (positive). IVIg therapy was continued and the patient experienced only one mild relapse during a 24-month follow-up. Our patient, with an aggressive and atypical MOG Ab-associated disease, showed a very good response to longterm IVIg treatment.


Assuntos
Imunoglobulinas Intravenosas/administração & dosagem , Glicoproteína Mielina-Oligodendrócito , Neuromielite Óptica/diagnóstico por imagem , Neuromielite Óptica/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Glicoproteína Mielina-Oligodendrócito/sangue , Neuromielite Óptica/sangue , Resultado do Tratamento
12.
Mult Scler Relat Disord ; 32: 33-36, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31030016

RESUMO

BACKGROUND: Several cases of neuromyelitis optica spectrum disorder (NMOSD) caused by interferon alpha (IFN-α) treatment in hepatitis C were reported in past literatures, but NMOSD resulted from IFN-α treatment in tumor has not yet been reported previously. METHODS: A unique case of NMOSD caused by IFN-α therapy in malignant melanoma is presented. Related cases about NMOSD caused by IFN-α therapy on Pubmed were reviewed further. RESULTS: A 40-year-old Chinese woman was diagnosed as right breast skin malignant melanoma and received melanoma resection in April 2012, then underwent IFN-α-2b therapy (5 million IU every time, 3 times/week) from May 2012 to Sep 2016. In December 2016, the patient developed bilateral optic neuritis, with no light perception at her worst. After a month-long glucocorticoid treatment, she could see finger movement from 40 cm. Serum positive anti-AQP-4 antibody was found by enzyme-linked immunosorbent assay (ELISA, 75.9 u/ml) in Feb 2017 and indirect immunofluorescence testing (IIFT, 1:320) in Sep 2017. Methylprednisolone (8 mg/day) and rituximab (0.1 g/every 6 months) were used for prevention. On the follow up visit in Jan 2019, she could see finger movement from 1 m, and no melanoma and NMOSD relapse were complained. Literature review only found 3 cases of NMOSD caused by IFN-α treatment in hepatitis. CONCLUSIONS: A unique case of NMOSD with positive anti-AQP-4 antibody after IFN-α treatment in malignant melanoma was reported. Type I IFNs may be pro-inflammatory in NMOSD and this possible consequence of IFNs use should be cautioned in future practice.


Assuntos
Interferon-alfa/efeitos adversos , Melanoma/tratamento farmacológico , Neuromielite Óptica/induzido quimicamente , Neuromielite Óptica/diagnóstico por imagem , Neoplasias Cutâneas/tratamento farmacológico , Adulto , Feminino , Humanos , Melanoma/diagnóstico , Neoplasias Cutâneas/diagnóstico
13.
Mult Scler Relat Disord ; 32: 41-45, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31030018

RESUMO

OBJECTIVE: To clarify the features of callosal lesions on magnetic resonance imaging (MRI) in Multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), and acute disseminated encephalomyelitis (ADEM). METHODS: Chinese patients diagnosed with MS (n = 33), NMOSD (n = 31), and ADEM (n = 18) were enrolled. Characteristics of lesions in corpus callosum were evaluated with 1.5 Tesla MRI scanners. Chi-squared test (Fisher's exact test) was used to analyze the data. RESULTS: In corpus callosum, NMOSD and ADEM lesions tend to have a diffuse distribution (p = 0.006, p = 0.033) and blurred margins (p < 0.001, p = 0.017), when compared with MS; lesions in NMOSD were less ovoid (p = 0.006), while fewer lesions in ADEM existed in the rostrum and genu (p = 0.002). NMOSD has the most heterogeneous intensity on post-enhancement sequences (p = 0.016, p = 0.001). Radial-like lesions were more common in MS and NMOSD (p = 0.019, p < 0.001). CONCLUSION: MS lesions were most likely focally-localized with clear margins. Radial callosal lesions are characteristic of MS and NMOSD but rarely seen in ADEM. The signal intensities of the lesion were the most heterogeneous in NMOSD. Therefore, the lesion patterns in corpus callosum may serve as a useful clue for correct diagnosis, facilitating early treatment.


Assuntos
Corpo Caloso/diagnóstico por imagem , Encefalomielite Aguda Disseminada/diagnóstico por imagem , Imagem por Ressonância Magnética , Esclerose Múltipla/diagnóstico por imagem , Neuromielite Óptica/diagnóstico por imagem , Adulto , China/epidemiologia , Encefalomielite Aguda Disseminada/epidemiologia , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Esclerose Múltipla/epidemiologia , Neuromielite Óptica/epidemiologia , Estudos Retrospectivos
14.
J Neurol ; 266(7): 1743-1755, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31016376

RESUMO

BACKGROUND: The diagnosis of atypical inflammatory demyelinating lesions can be difficult. Brain biopsy is often required to exclude neoplasms. Moreover, the relationship between these lesions and multiple sclerosis and NMOSD is not clear. OBJECTIVES: Our objectives were to describe radiological and pathological characteristics of patients with acute inflammatory demyelinating lesions. METHODS: We retrospectively identified patients with brain biopsy performed for diagnostic uncertainty revealing a demyelinating lesion. A complete clinical, biological, radiological and pathological analysis was performed. RESULTS: Twenty patients (15 with a single lesion) were included. MRI disclosed a wide range of lesions including infiltrative lesions (40%), ring-like lesion (15%) Baló-like lesion (15%) and acute haemorrhagic leukoencephalitis (20%). In spite of a marked heterogeneity, some findings were common: a peripheral B1000 hyperintense rim (70%), a slight oedema with mild mass effect (75%) and an open-rim peripheral enhancement (75%). Histopathology revealed that all cases featured macrophages distributed throughout, extensive demyelination, axonal preservation and absence of haemorrhagic changes. In the majority of cases, macrophages were the predominant inflammatory infiltrate and astrocytes were reactive and dystrophic. Aquaporin-4 staining was systematically preserved. After a mean follow-up of 5 years (1-12), 16/20 patients had a diagnosis of monophasic acute atypical inflammatory demyelinating lesion. One patient was diagnosed with MS and 3 with AQP4 negative NMOSD. DISCUSSION: Although imaging findings in patients with atypical inflammatory demyelinating lesions are heterogeneous, some common features such as peripheral DWI hyperintense rim with open-rim enhancement and absence of oedema argue in favour of a demyelinating lesion and should preclude a brain biopsy. In this context, AQP4 staining is systematically preserved and argues against an AQP4-positive NMOSD. Moreover, long-term follow-up is characterized by low recurrence rate.


Assuntos
Aquaporina 4 , Doenças Desmielinizantes/diagnóstico por imagem , Doenças Desmielinizantes/epidemiologia , Imagem por Ressonância Magnética , Doença Aguda , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/epidemiologia , Neuromielite Óptica/diagnóstico por imagem , Neuromielite Óptica/epidemiologia , Estudos Retrospectivos , Adulto Jovem
15.
Mult Scler Relat Disord ; 32: 9-12, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31005027

RESUMO

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder of the central nervous system that usually presents with acute myelitis and/or optic neuritis. Cortical lesions used to be regarded as "red flags" of NMOSD, and indicated the possibility of alternative diagnoses. We recently had reported a NMOSD patient with weakness in both lower limbs resulting from cortical damage, which was usually attributed to spinal cord lesions. Surprisingly, we identified another patient bearing an uncanny resemblance of imaging manifestations. Cases of NMOSD with cortical impairment reported in the English language literature were reviewed and the demographic characteristics, clinical features, response to treatment, and imaging findings of these cases were analyzed. RESULTS: Our literature review identified other nine cases excluding our previously reported one. All patients had abnormal magnetic resonance imaging (MRI) signals findings in the cortex and leptomeninges. Eight cases reported symptoms of specific cortical impairments. Seven cases underwent follow-up MRI examination and all displayed normal images. Three cases had a previous history of Sjögren's syndrome. CONCLUSIONS: Cortical impairment with leptomeningeal enhancement can be considered an imaging performance component of NMOSD. Serious damage to the blood-brain barrier and Aquaporin-4 antibody (AQP4) may be involved in the process of cortical and leptomeningeal damage. We identified the frontal lobes as being the most susceptible area, especially the cortex adjacent to the cerebral falx. NMOSD cortical lesions may be reversed by methylprednisolone and immunosuppressant treatment.


Assuntos
Córtex Cerebral/diagnóstico por imagem , Neuromielite Óptica/diagnóstico por imagem , Adulto , Aquaporina 4/metabolismo , Córtex Cerebral/metabolismo , Feminino , Humanos , Neuromielite Óptica/metabolismo
16.
Mult Scler Relat Disord ; 31: 124-130, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30981191

RESUMO

Neuromyelitis optica spectrum disorder (NMOSD) is a rare disease that commonly presents with optic nerve and spinal cord inflammation, and it is associated with the presence of aquaporin-4 immunoglobulin G antibody (AQP4-IgG). Information on the clinical profile and occurrence of NMOSD among Filipino patients, however, is not sufficiently documented. In this series, we presented eighteen (18) patients with NMOSD consecutively seen in the Philippine General Hospital, a major tertiary referral center. Demographic data showed a female-to-male ratio of 2.6:1. Median age of onset of symptoms was 26 years. Eight patients (53.3%) were positive for AQP4-IgG. Most patients initially presented with myelitis (56.6%) and followed by optic neuritis (16.7%) and area postrema syndrome (16.7%). All patients had longitudinally extensive transverse myelitis on magnetic resonance imaging (MRI). Cranial MRI rarely demonstrated lesions in the optic nerves (18.2%). CSF pleocytosis (33%) and increased protein (8.3%) were infrequent. These results demonstrated that the profile of Filipino patients with NMOSD seen in our institution strengthens those described in other populations with this disorder. Large scale cross-sectional studies are necessary to fully define the profile of these patients and to determine with accuracy the prevalence and incidence of this disorder in the Philippines. Further investigation regarding the utility of ancillary tests as diagnostic and prognostic indicators in patients with NMOSD are also suggested by the authors.


Assuntos
Neuromielite Óptica/epidemiologia , Adulto , Idade de Início , Aquaporina 4/imunologia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Feminino , Humanos , Imunoglobulina G/imunologia , Masculino , Pessoa de Meia-Idade , Neuromielite Óptica/diagnóstico por imagem , Neuromielite Óptica/imunologia , Neuromielite Óptica/patologia , Filipinas , Medula Espinal/diagnóstico por imagem , Medula Espinal/patologia , Centros de Atenção Terciária , Adulto Jovem
17.
J Neuroimmunol ; 330: 152-154, 2019 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-30884276

RESUMO

We describe the case of a 53-year-old woman who undergoes total splenectomy and later presents with aquaporin-4 antibody positive neuromyelitis optica (NMO). The occurrence of NMO after acquired immunosuppression raises the possibility of NMO as a form of secondary autoimmunity.


Assuntos
Autoimunidade/imunologia , Neuromielite Óptica/diagnóstico por imagem , Neuromielite Óptica/imunologia , Esplenectomia/efeitos adversos , Feminino , Humanos , Pessoa de Meia-Idade , Neuromielite Óptica/etiologia
18.
Neuropediatrics ; 50(3): 193-196, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30913570

RESUMO

B cell depletion with the anti-CD20-antibody rituximab is widely considered treatment of choice for long-term immunotherapy in aquaporin-4 (AQP4)-antibody positive neuromyelitis optica spectrum disorder (NMOSD). However, up to 30% of patients suffer from relapses despite complete B cell depletion. In these cases, the IL6 (interleukin-6)-receptor blocking antibody tocilizumab has been suggested as an alternative. We report two female adolescents with AQP4-antibody positive NMOSD who relapsed under rituximab treatment and clinically stabilized after switching to monthly administrations of tocilizumab. Our data suggest that early escalation of therapy with tocilizumab may lead to stabilization of disease activity in pediatric NMOSD patients who relapse under B cell depletion.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Aquaporina 4/sangue , Autoanticorpos/sangue , Neuromielite Óptica/sangue , Neuromielite Óptica/tratamento farmacológico , Adolescente , Feminino , Humanos , Neuromielite Óptica/diagnóstico por imagem , Resultado do Tratamento
19.
Rev. chil. radiol ; 25(1): 5-18, mar. 2019. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-1003745

RESUMO

La esclerosis múltiple (EM) es la enfermedad inflamatorio-desmielinizante del Sistema nervioso central más prevalente en adultos. La resonancia magnética (RM) juega un rol cada vez más importante en el estudio de esta patología, en especial en su diagnóstico precoz, por lo que la diferenciación imagenológica de variantes frecuentes e infrecuentes de EM con otras patologías de sustancia blanca que comprometen encéfalo y médula espinal es esencial. Mediante una revisión pictórica se ilustrarán características típicas en RM del compromiso por EM y de variantes menos habituales de lesión desmielinizante, y se ilustrarán hallazgos característicos de lesiones relacionadas a vasculopatías inflamatorias y no inflamatorias, encefalomielitis diseminada aguda (ADEM), neuromielitis óptica (NMO) y enfermedades vasculares de la médula espinal que pueden simular EM, con énfasis en el diagnóstico diferencial radiológico.


Multiple sclerosis (MS) is the most prevalent inflammatory-demyelinating disease of the central nervous system in adult population. Magnetic resonance imaging (MRI) has an increasingly important role, especially in early diagnosis, so the imaging differentiation of frequent and infrequent variants of MS with other white matter diseases of brain and spinal cord is essential. Through a pictorial essay we show typical MR features of MS and more infrequent variants of demyelinating lesions and illustrate characteristic imaging findings of inflammatory and non-inflammatory vasculopathies, acute disseminated encephalomyelitis (ADEM), neuromyelitis optica (NMO) and vascular diseases of spinal cord that may simulate MS, with emphasis on imaging differential diagnosis.


Assuntos
Humanos , Esclerose Múltipla/diagnóstico por imagem , Imagem por Ressonância Magnética , Tomografia Computadorizada por Raios X , Neuromielite Óptica/diagnóstico por imagem , Diagnóstico Diferencial , Encefalomielite Aguda Disseminada/diagnóstico por imagem , Síndrome de Susac/diagnóstico por imagem
20.
Mult Scler Relat Disord ; 30: 57-62, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30738281

RESUMO

BACKGROUND: The aim of the current study was to examine intra-family phenotype variations in familial neuromyelitis optica (NMO) spectrum disorder. METHODS: The clinical presentation and neuroimaging features of two family members (mother and daughter) from a NMO spectrum disorder family (index family) were analyzed. Multiplex polymerase chain reaction was performed based on targeted re-sequencing on the AQP4 gene and the human leukocyte antigen (HLA) loci. The clinical and neuroimaging features of the members of six other previously reported NMO spectrum disorder families were also included for analysis. RESULTS: In the core family, the mother was aged 39 at disease onset and the initial presentation was spinal cord involvement, whereas the daughter was 22 years old at disease onset and the initial presentation was brainstem involvement. No coding pathogenic variants or single nucleotide polymorphisms of the AQP4 gene were identified in the mother, daughter or father. As for HLA genotyping, the HLA-DRB1*03 and HLA-DPB1*04 alleles were shared by the mother and daughter. The HLA-DPB1*05 was present in the affected daughter and was inherited from the unaffected father. As for the other six reported families with familial NMO spectrum disorder, four mother-daughter pairs had a different age at disease onset and/or a different initial presentation. The other two affected family groups were sister-sister pairs; they had a similar age of onset and similar initial presentations. CONCLUSION: The present study offers a preliminary view of the clinical and neuroimaging features of patients with familial NMO spectrum disorder. Clinical heterogeneities were found among the family members, especially the mother and daughter pairs. The presence of risk allele HLA-DR*03:01 may be an important genetic finding for familial NMO spectrum disorder patients. To the best of our knowledge, this clinical heterogeneity has not been previously examined or reported in the literature. For better delineation of the intra-familial phenotype variations in familial NMO spectrum disorder, further large-scale studies are needed.


Assuntos
Antígenos HLA-D/genética , Neuromielite Óptica/diagnóstico por imagem , Neuromielite Óptica/genética , Neuromielite Óptica/fisiopatologia , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Linhagem , Fenótipo , Adulto Jovem
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