Managing the child with a diagnosis of Moebius syndrome: more than meets the eye

Abstract

Moebius syndrome (MBS) is a congenital, non-progressive facial and abducens nerve palsy in the presence of full vertical gaze and may be associated with limb abnormalities and craniofacial dysmorphisms. MBS is now defined as a disorder of rhombencephalic maldevelopment and recent gene discoveries have shown this to be a dominant disorder in a subset of patients. Accurate diagnosis and management by a multidisciplinary team with expertise in congenital facial palsy is paramount.

Congenital facial palsy and emotion processing: The case of Moebius syndrome

“…The prevalence of MBS is estimated to be 1 in 50 000 to 1 in 500 000 live births with equal incidence in both sexes . Because of facial and eye movement restriction, rates of autism and other mental disorders in people with MBS were previously overstated in the literature . Most patients present normal intelligence, while rare cases of autistic‐like behaviors (0%‐5%) and mild mental retardation (9%‐15%) have been reported .…”

“…30,43 Because of facial and eye movement restriction, rates of autism and other mental disorders in people with MBS were previously overstated in the literature. 44,45 Most patients present normal intelligence, while rare cases of autistic-like behaviors (0%-5%) and mild mental retardation (9%-15%) have been reported. 44,46,47 The syndrome is also referred to as Moebius "sequence," term which defines a cascade of secondary events after an initial insult during the embryonic development, 13,48 as well as a possible genetic etiology 49 (see Box 1).…”

The Epidemiology of Moebius Syndrome

“…Genetics may be also valuable for a better understanding of the pathogenesis of those forms presenting extra-ocular associated anomalies. 19 Another interesting point is that patients who were evaluated by our staff after 2007 had an earlier diagnosis than those born before 2007…”

Impacto do comprometimento motor oral e de condições sistêmicas na qualidade de vida relacionada à saúde de crianças e adolescentes com sequência de Moebius e síndrome de Down

“…Algumas patologias, como paralisia cerebral, mielomeningocele, fendas palatinas/labiais, sequência de Pierre Robin e de Moebius, síndrome de Goldenhar, síndrome de Down, síndrome de Willians, síndrome de Rett e síndrome velocardiofacial podem levar ao prejuízo da capacidade motora orofacial (Carneiro;Gomes, 2005;Oliveira et al, 2007;Cooper-Brown et al, 2008;Arvedson, 2013;Ortega et al, 2014;Barton et al, 2018 (Arvedson, 2008;Barton et al, 2018 (Smith, 2006;Ortega et al, 2009;Samson et al, 2017 (Arvedson, 2008;McKay et al, 2016). Entretanto, em muitos casos, os problemas na fala e a falta de expressão facial conduzem erroneamente ao diagnóstico de deficiência mental (Picciolini et al, 2016).…”

“…de origem genética ou por alterações locais na embriogênese, alguns estudos em animais sugerem a participação de eventos hipóxicos ou isquêmicos cerebrais na etiologia da síndrome de Moebius(World Health Organization, 1997;Castro et al, 2016).As características clínicas mais importantes são paralisia facial do tipo periférico, geralmente bilateral, paralisia do sexto par craniano, atrofia da musculatura lingual e outras anomalias musculares e ósseas localizadas com maior frequência nos membros superiores e inferiores, em sua porção distal. Estas alterações produzem dos nervos da face, muitas vezes com indicações cirúrgicas reparadoras da função e de estética(McKay et al, 2016).Também observamos micrognatia, ausência de alguns músculos, fraqueza musculoesquelética generalizada. Como parte das consequências das manifestações músculoesqueléticas, sabemos das dificuldades de sucção e fechamento das pálpebras.…”