Juvenile myasthenia gravis with prepubertal onset

Evoli, Amelia; Batocchi, Anna Paola; Bartoccioni, Emanuela; Lino, Maria Maddalena; Minisci, C.; Tonali, P.

doi:10.1016/s0960-8966(98)00077-7

Cited by 85 publications

(121 citation statements)

References 32 publications

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“…The lower prevalence reported in this study could be due to the fact that such patients were recruited from services that primarily deliver care to adults. This finding is in agreement with Evoli et al who found a prevalence of juvenile myasthenia of 2.3% in the whole myasthenic population 13 . All patients in the group with such early age of onset in the present study were females.…”

Section: General Socio-demographic Findingssupporting

confidence: 93%

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Myasthenia gravis in Ceará, Brazil: clinical and epidemiological aspects

Aguiar

Carvalho

Costa

et al. 2010

Arq. Neuro-Psiquiatr.

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A retrospective chart review was performed on patients diagnosed as having myasthenia gravis in Ceará State, Brazil and who were followed from October 1981 to June 2009. Clinical and epidemiologic aspects were evaluated. In this work, 122 patients were studied, of whom 85 (69.7%) were females and 37 (30.3%) were males. The disease duration ranged from five months to 50 years (8.9±8.1 years). Age at the first symptoms varied from 0 to 74 years (31.9±14.4 years). The first main symptoms and signs were ptosis, diplopia and limb weakness. Generalized myasthenia was the most common clinical presentation, but 5.1% (n=6) persisted as ocular myasthenia. Thymectomy was performed in 42.6% (n=52) of myasthenic patients. A thymoma was present in 10 patients. Serum acetylcholine receptor (AChR) antibodies were present in 80% (n=20) of specimens tested. The data presented are similar to those of studies performed in other countries. Key words: myasthenia gravis, clinical evaluation, epidemiology.Miastenia gravis no Ceará, Brasil: aspectos clínicos e epidemiológicos RESUMO Foram analisados, retrospectivamente, os prontuários de pacientes miastênicos, diagnosticados e seguidos entre outubro de 1981 e junho de 2009 no Estado do Ceará, Brasil. Foram coletados dados clínicos e epidemiológicos. Na casuística foram estudados 122 pacientes: 85 (69,7%) do sexo feminino e 37 (30,3%) do sexo masculino. O tempo de doença variou de 5 meses a 50 anos (8,9±8,1 anos). A idade de inicio da doença variou de 0 a 74 anos (31,9±14,4 anos). Na amostra estudada, os primeiros sintomas foram principalmente ptose, diplopia e fraqueza dos membros. A maioria dos pacientes apresentou a forma generalizada, enquanto 5,1% (n= 6) persistiram com miastenia ocular. Timectomia foi realizada em 42,6% (n=52) dos pacientes. Timoma estava presente em 10 pacientes. Anticorpo anti-receptor de acetilcolina foi positivo em 80% (n=20) das amostras testadas. Os aspectos clínicos e epidemiológicos da amostra estudada têm semelhança com aqueles estudados em outros países.

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Section: General Socio-demographic Findingssupporting

confidence: 93%

“…The disease has a higher prevalence in women than in men, with an approximate female-to-male ratio of 2:1 12 . MG in childhood and adolescence is rare 13,14 . Girls are more frequently affected than boys in a proportion of 1.3:1 at pre-pubertal ages and 1.8:1 in peripubertal ages 15 .…”

mentioning

confidence: 99%

Myasthenia gravis in Ceará, Brazil: clinical and epidemiological aspects

Aguiar

Carvalho

Costa

et al. 2010

Arq. Neuro-Psiquiatr.

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“…There are two reports regarding the positivity for anti-AChR antibodies in childhood-onset ocular MG: one reported 43% (3/7) 14 and the other documented 80% (4/5). 15 The ratio of positivity of the antibody in this study was 78% (7/9). Furthermore, no significant differences have been reported in the ratio of males to females in childhood, which is in contrast to the female predominance observed in adult MG.…”

Section: Discussionmentioning

confidence: 45%

“…The presence of thymoma is exceedingly rare in pediatric populations. Pediatric MG also spontaneously resolves at a higher rate than 12,[15][16][17][18][19] Nevertheless, immunological differences between childhood-onset and adult MG remain unclear.…”

Section: Discussionmentioning

confidence: 99%

An Increase in Circulating B Cell–Activating Factor in Childhood-Onset Ocular Myasthenia Gravis

Motobayashi

Inaba

Nishimura

et al. 2015

Pediatric Neurology

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Myasthenia gravis is a B cellemediated autoimmune disorder. The pathophysiology of childhoodonset ocular myasthenia gravis remains unclear. We investigated serum B celleactivating factor levels and other immunological parameters in child patients with ocular myasthenia gravis. METHODS: Blood samples were obtained from 9 children with ocular myasthenia gravis and 20 age-matched controls. We assayed serum concentrations of B celleactivating factor, anti-acetylcholine receptor antibody titers, 7 types of cytokines (interleukins-2, -4, -6, -10, and -17A; interferon-g; tumor necrosis factor-a) as well as the percentages of peripheral blood CD4þ, CD8þ, and CD19þ cells. RESULTS: Serum B celleactivating factor levels were significantly higher before immunosuppressive therapy in patients with childhood-onset ocular myasthenia gravis than in controls and decreased after immunosuppressive therapy. A significant positive correlation was observed between serum B celleactivating factor levels and anti-acetylcholine receptor antibody titers in patients with myasthenia gravis. Serum B celleactivating factor concentrations did not correlate with the percentages of CD4þ, CD8þ, and CD19þ cells or the CD4þ/CD8þ ratio. No significant differences were observed in the levels of the 7 different types of cytokines examined, including interleukin-17A, between preimmunosuppressive therapy myasthenia gravis patients and controls. CONCLUSIONS: Circulating B celleactivating factor may play a key role in the pathophysiology of childhood-onset ocular myasthenia gravis.

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“…Ptosis is a presenting feature in most of them followed by limitation of eye movement [9]. Autoimmune MG only exceptionally starts as early as the first year of life, although seronegativity is relatively frequent in young MG patients [10,11].…”

Section: Discussionmentioning

confidence: 99%

Congenital myasthenic syndrome due to mutation in CHRNE gene

Jastrzębska¹

2017

Child Neurology

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STRESZCZENIEWrodzone zespoły miasteniczne (CMS) należą do grupy chorób rzadkich, heterogennych genetycznie. Są zaliczane do chorób złącza nerwowo -mięśniowego. Wśród CMS najczęściej występują postsynaptyczne CMS. Objawy mogą być zbliżone do objawów autoimmunologicznej miastenii, a diagnostyka opiera się na badaniach genetycznych. W naszej pracy prezentujemy przypadek chłopca z wrodzonym zespołem miastenicznym spowodowanym mutacją w genie CHRNE i z dodatnim wywiadem rodzinnym w kierunku autoimmunologicznej miastenii. Słowa kluczowe: Wrodzone zespoły miasteniczne, mutacja CHRNE, miastenia gravis ABSTRACT Congenital myasthenic syndromes (CMS) belong to a group of rare genetically heterogeneous diseases that affect neuromuscular junction. The most frequent are postsynaptic CMS. Symptoms may mimic myasthenia gravis and diagnosis relies on genetic testing. We report a case of a boy with CMS due to CHRNE mutation and positive family history of autoimmune myasthenia gravis.

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Juvenile myasthenia gravis with prepubertal onset

Cited by 85 publications

References 32 publications

Myasthenia gravis in Ceará, Brazil: clinical and epidemiological aspects

Myasthenia gravis in Ceará, Brazil: clinical and epidemiological aspects

An Increase in Circulating B Cell–Activating Factor in Childhood-Onset Ocular Myasthenia Gravis

Congenital myasthenic syndrome due to mutation in CHRNE gene

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