Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation

Tani, Hiroo; Ishikawa, Nobutsune; Kobayashi, Yoshiyuki; Yamaoka, Shohei; Fujii, Yuji; Kaneko, Kimihiko; Takahashi, Toshiyuki; Kobayashi, Masao

doi:10.1016/j.braindev.2018.06.011

Cited by 7 publications

(7 citation statements)

References 8 publications

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“…15 Two further single cases were recently published, describing children with symptoms suggestive of encephalitis associated with MOG abs but with MRI features more reminiscent of ADEM underscoring the need for precise terminology and diagnostic standards for children with MOG-SD. 25,26 Recently, Armangue et al showed that the spectrum of MOG-SD is wider than previously reported including children with encephalitis. 27 In their large cohort of children with ADS and encephalitis, they found that 22/296 children with definite or possible AE harbored MOG abs.…”

Section: Discussionmentioning

confidence: 98%

Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies

Wegener-Panzer

Cleaveland

Wendel

et al. 2020

Neurol Neuroimmunol Neuroinflamm

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ObjectiveTo describe the presentations, radiologic features, and outcomes of children with autoimmune encephalitis associated with myelin oligodendrocyte glycoprotein antibodies (MOG abs).MethodsIdentification of children fulfilling the diagnostic criteria for possible autoimmune encephalitis (AE) and testing positive for serum MOG abs. Chart review and comprehensive analysis of serum MOG abs using live cell assays and rat brain immunohistochemistry.ResultsTen children (4 girls, 6 boys) with AE and serum MOG abs were identified. The median age at onset was 8.0 years (range: 4–16 years). Children presented with a combination of encephalopathy (10/10), headache (7/10), focal neurologic signs (7/10), or seizures (6/10). CSF pleocytosis was common (9/10, median 80 white cell count/μL, range: 21–256). Imaging showed cortical and deep gray matter involvement in all in addition to juxtacortical signal alterations in 6/10 children. No involvement of other white matter structures or contrast enhancement was noted. MOG abs were detected in all children (median titer 1:640; range: 1:320–1:10,540). Nine children had a favorable outcome at discharge (modified Rankin scale of < 2). Five of 10 children had up to 3 additional demyelinating relapses associated with persisting MOG abs. One child had NMDA receptor (NMDAR) abs at initial presentation. A second child had a third demyelinating episode with MOG abs with overlapping NMDAR encephalitis.DiscussionAE associated with serum MOG abs represents a distinct form of autoantibody-mediated encephalitis in children. We therefore recommend including MOG abs testing in the workup of children with suspected AE.

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Section: Discussionmentioning

confidence: 98%

Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies

Wegener-Panzer

Cleaveland

Wendel

et al. 2020

Neurol Neuroimmunol Neuroinflamm

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“…The numbers in the "signs and symptoms" column refer to the number of patients included in the study. In all the evaluated articles, RS was identified as a progressive neurological deficiency characterized by mutations in the methyl-CpG binding protein 2 (MECP2) gene, located on the X chromosome 2,5,6,[10][11][12] . Therefore, in individuals with RS, the consequences of the mutation manifest in the early stages of childhood, as this protein plays an auxiliary role in postnatal neural maintenance.…”

Section: Resultsmentioning

confidence: 99%

“…Rett Syndrome (RS) is a rare neurodevelopmental disorder that affects 1 in every 10,000 -15,000 births, being more prevalent in women due to mutations in the Methyl-CpG binding protein 2 (MECP2 gene) occurring on the X chromosome, making it the second most common cause of severe intellectual deficit in this population. The severity of the condition differs by sex and in females it is due to the dominant nature of the syndrome and the random inactivation of one of the X chromosomes in each cell, resulting in less severe clinical manifestations, while in males the mutation leads to a lethal condition [1][2][3][4][5][6][7] .…”

Section: Introductionmentioning

confidence: 99%

“…In general, clinical characteristics begin to appear between 6 and 18 months of age, initially with the acquisition of purposeful manual skills and spoken language and subsequent neurological regression, reflecting motor, autonomic and cognitive deficits. Added to this, some patients may present characteristics of the Autism Spectrum Disorder, such as interaction and socialization difficulties, limitation of eye contact and irritability, which is generally transient [1][2][3][4][5][6]8,9 . Diagnostic criteria for RS are met as the disease develops.…”

Section: Introductionmentioning

confidence: 99%

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Achados neurológicos em estudos de imagem e achados clínicos: revisão de literatura

Almeida Santos de Santana,

Garcia de Carvalho Laguna,

Da Mota Carneiro

et al. 2023

Rev Neurocienc

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Introdução. A Síndrome de Rett é um distúrbio raro de neurodesenvolvimento, que se caracteriza por perda de habilidades, manifestando-se entre os 6 e 18 meses de idade. O diagnóstico é clínico, mas exames de imagem facilitam diagnósticos diferenciais, determinação prognóstica e direcionamento do tratamento. Objetivo. Avaliar a relação entre os principais achados neurológicos em exames de imagem de pacientes com síndrome de Rett e os achados clínicos. Método. Revisão da literatura com dados foram obtidos a partir das bases de dados PubMed, SciELO, Cochrane e Web of Science, por artigos em português ou inglês, publicados entre 2011-2020, a partir dos descritores "Rett, ressonância" e "Rett, tomografia," combinados com "Rett Syndrome". Os 100 artigos localizados foram triados de acordo com critérios de exclusão: idioma, período, artigo de revisão, em modelos experimentais, que não abordassem dados do sistema nervoso, sem confirmação de Síndrome de Rett com mutação em MECP2 e/ou que não respondessem aos objetivos da pesquisa; e 6 artigos foram selecionados. Resultados. Os principais achados neurológicos nos exames de imagem foram hipotrofia cerebral e anisotropia fracionada. Os sinais e sintomas mais recorrentes foram deterioração da função motora, perda da função verbal e tônus muscular anormal. A análise demonstrou que os sintomas mais recorrentes podem ser atribuídos, pelo menos em parte, a alterações neurobiológicas. Conclusão. Esta revisão contribui para a compreensão da relação entre sintomas clínicos e achados em exames de imagem de pacientes com Síndrome de Rett, entretanto, considerando a pequena amostra localizada, são importantes novas pesquisas relacionadas ao tema.

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“…The disease is also characterized by a neurodevelopmental disorder caused by mutations in the MECP2 gene. Besides the most common cause being intellectual disability, other clinical characteristics are impairment of cognition and communication, respiratory disorders, and gait changes, that is, diseases that can significantly affect the child's motor development (4,5) .…”

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confidence: 99%

Effects of two different inspiratory muscle training devices on respiratory muscle strength, cardiopulmonary functional capacity, and quality of life of COPD patients

Paula¹,

Eltz²,

Santos³

et al. 2022

mtprehabjournal

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Introduction: Inspiratory muscle weakness is one of the complications of chronic obstructive pulmonary disease (COPD). This condition has been minimized by inspiratory muscle training (IMT). Still, different IMT devices need to be compared to identify the best option. Objective: To evaluate the effects of two IMT devices on respiratory muscle strength, cardiorespiratory functional capacity, and life quality of COPD patients. Method: Before and after the IMT protocol, 17 patients were submitted to manovacuometry, six-minute walk test (6MWT), and questionnaire from the Saint George Hospital in Respiratory Disease (SGRQ) for inspiratory muscle strength, cardiorespiratory functional capacity, and life quality assessments, respectively. Afterwards, they were divided into two groups to perform IMT for four weeks, one by Threshold® IMT (IMTG) and the other by POWERbreathe® Classic (PG). Results: Maximal inspiratory pressure increased significantly from -62.00±16.03 to -75.55±22.84 cmH2O in IMTG, and from -56.00±22.01 to -71.25±27.67 cmH2O in PG. The distance covered in the 6MWT clinically increased with both IMTG and PG. The SGRQ answers showed improvements in all domains evaluated for both groups. However, the intergroup results showed no statistically significant differences. Conclusion: Both IMT devices increased inspiratory muscle strength, improved life quality, and optimized cardiorespiratory functionality in COPD patients. None was superior to the other for the analyzed parameters.

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Anti-MOG antibody encephalitis mimicking neurological deterioration in a case of Rett syndrome with MECP2 mutation

Cited by 7 publications

References 8 publications

Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies

Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies

Achados neurológicos em estudos de imagem e achados clínicos: revisão de literatura

Effects of two different inspiratory muscle training devices on respiratory muscle strength, cardiopulmonary functional capacity, and quality of life of COPD patients

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