Síndrome de Moebius incompleto. Presentación de un caso clínico / Incomplete Moebius syndrome. Clinical case presentation

RESUMEN El síndrome de Moebius es un trastorno polimalformativo no progresivo que se caracteriza por parálisis facial congénita. Se define como una "parálisis congénita de los núcleos de los pares craneales VI y VII, cuyo espectro clínico es variable y se asocia a múltiples malformaciones óseas y musculares. Es poco frecuente y de etiología vascular, genética o multifactorial. El trabajo, basándose en los fundamentos teóricos más actualizados, pretendió describir las manifestaciones clínicas del síndrome de Moebius y su posible etiología, a propósito de un caso. Se trató de un paciente de 11 años de edad, que al nacimiento presentó asimetría facial, desviación de la comisura labial hacia la izquierda, boca semiabierta, lagrimeo constante y pabellón auricular derecho malformado. Por ser una entidad clínica poco conocida, se expuso el presente caso, portador de un síndrome de Moebius incompleto de causa vascular y multifactorial (AU).

ABSTRACT Moebius syndrome is a non-progressive poli-formative disorder characterized by facial congenital paralysis. It is defined as a congenital paralysis of the VI and VII cranial nerves nuclei, the clinical spectrum of which is variable and associated to several bone and muscular malformations. It is few frequent and has vascular, genetic or multifactorial etiology. This work, based on more updated theoretical fundaments, pretended to describe the clinical manifestations of the Moebius syndrome and its possible etiology on the purpose of a case. It is the case of a patient, aged 11 years, who presented facial asymmetry, lips commissure deviation to the left, semi-opened mouth, constant lagrimeo and deformed right auricular pavilion (pabellon auricular). Because it is a little known clinical entity, this case of a patient having an incomplete Moebius syndrome of vascular and multifactorial cause was presented (AU).

Secuencia Moebius. Análisis retrospectivo de 30 pacientes / Moebius syndrome. A retrospective analysis of 30 patients.

Introducción: La secuencia Moebius se caracteriza por el compromiso congénito de los nervios motor ocular externo y facial, y se puede asociar al compromiso de otros pares craneales y a otros defectos congénitos. Su etiología es multifactorial y no bien definida, actualmente la teoría más aceptada es la disrupción vascular durante el desarrollo del romboencéfalo. Su incidencia exacta se desconoce, pero impresiona estar en aumento y asociada a la exposición prenatal a teratógenos. Objetivos: Analizar las historias clínicas de 30 pacientes con secuencia Moebius y las características de su compromiso ocular. Materiales y métodos: Estudio retrospectivo, transversal, observacional y descriptivo. Se analizaron 30 historias clínicas de pacientes con secuencia Moebius atendidos por vez primera entre el mes de Julio de 1999 y Junio de 2012 por el servicio de Oftalmología del Hospital Garrahan. Resultados: Se estudiaron 30 pacientes 15 de sexo femenino y 15 de sexo masculino, dentro de los antecedentes maternos 7 madres refirieron ingesta de misoprostol y 4 tuvieron metrorragias durante el primer trimestre de embarazo. Todos los pacientes tuvieron compromiso del VII nervio; en 20 pacientes fue bilateral y simétrico; y en los restantes asimétrico. Todos los pacientes tuvieron compromiso del VI nervio bilateral, a algunos de los cuáles se les efectuó cirugía de estrabismo otros están en plan de cirugía y unos pocos no la requirieron por presentar fijación de ambos ojos en posición primaria de la mirada. Conclusión: la secuencia Moebius es una rara patología genética y congénita multifactorial y de compromiso multisistémico que ha visto incrementada su frecuencia desde el uso de ciertos fármacos teratógenos y que obliga a una intervención quirúrgica precoz de neuroortopedistas, oftalmólogos, cirujanos plásticos y control clínico multidisciplinario para brindarles a estos niños las mejores posibilidades de desarrollo funcional y estético reparador (AU)

Introduction: Moebius syndrome is characterized by congenital palsy of the external and facial oculomotpr nerves, and may be associated with involvement of other cranial nerves and congenital defects. The etiology is multifactorial and not well defined. Currently, the most widely accepted theory is a rhombencephalic maldevelopment. The true incidence of Moebius syndrome is unknown, but it seems to be increasing associated with prenatal exposure to teratogenic factors. Objectives: To analyze the clinical charts of 30 patients with Moebius syndrome assessing ocular involvement. Material and methods: A retrospective, cross-sectional, observational study. Thirty clinical charts of patients with Moebius syndrome that were first seen at the Department of Ophthalmology of Hospital Garrahan between July 1999 and June 2012 were assessed. Results: Of the 30 patients 15 were female and 15 male. Maternal history showed seven mothers that received misoprostol and four that had metrorrhagia in the first trimester of pregnancy. All patients had VII cranial nerve involvement; the involvement was bilateral and symmetric in 20 and asymmetric in the remaining patients. All patients had bilateral VI nerve involvement, some of whom underwent surgery for strabismus, others are on the list for surgery, and a few do not require surgery because of fixation of both eyes in primary gaze position. Conclusion: Moebius syndrome is a rare multifactorial genetic and congenital pathology with multisystemic involvement and increased incidence because of the use of teratogenic drugs requiring early surgical intervention by neuroorthopedic and plastic surgeons, and ophthalmologists, and a multidisciplinary follow-up to provide these children with the best possibilities for functional development and aesthetic repair (AU)

Síndrome de Mõbius: significados na vida dos portadores / Mõbius syndrome: the meaning in the life of the carriers

JUSTIFICATIVA E OBJETIVO: A síndrome de Mõbius, evento raro, resulta de uma desordem neurológica que se caracteriza por paralisia congênita do sétimo par de nervos cranianos, acompanhada de mal formações límbicas e das demais estruturas orofaciais. Caracteriza-se clinicamente pela ausência de expressão facial e distúrbios da fala, principalmente. Tais alterações influenciam diretamente na vida social do portador. Trata-se de uma síndrome rara, por isso pouco estudada, sendo o aspecto emocional não abordado pela literatura atual. O objetivo deste estudo foi identificar o sentimento e o significado da síndrome na vida de seus portadores. MÉTODOS: Foram entrevistados portadores da síndrome e, por meio do Discurso do Sujeito Coletivo, buscou-se avaliar o significado da síndrome. RESULTADOS: Evidenciou-se que, apesar das malformações e das dificuldades na fala, que impõem dificuldades no dia a dia, há adaptação por parte dos sindrômicos, que vivem normalmente. CONCLUSÃO: Os portadores da síndrome de Mõbius reconhecem as dificuldades impostas por sua condição, mas se adaptam bem a elas vivendo normalmente.

BACKGROUND AND OBJECTIVE: The Moebius syndrome, a rare disorder, results from a neurological disorder that is characterized by congenital paralysis of the seventh cranial nerve accompanied by limbic and other orofacial structures malformations. It is clinically characterized by the absence of facial expression and speech disorders, especially. These changes directly influence the social life of the patient. This is a rare syndrome, so, little studied, and the emotional aspect not addressed by the current literature. The objective of this article was to identify the feeling and the meaning of the syndrome in the lives of their carriers. METHODS: Patients with the syndrome were interviewed and through the Collective Subject Discourse, we seek to assess the significance of this syndrome. RESULTS: The results showed that despite the defects and difficulties in speech, which imposes difficulties in day-to-day, there is adaptation by the syndromic, which normally live. CONCLUSION: Moebius syndrome carriers recognize the difficulties imposed by their condition, but they adapt well to living normally.

Paralisia facial: quantos tipos clínicos você conhece? Parte II / Facial palsy: how many clinical types do you know? Part II

Em dois manuscritos, os autores comentam aspectos clínicos de 17tipos de paralisia/paresia facial subdivididos em três grupos. Num artigo anterior (parte I), os dois primeiros grupos de paralisias faciais (periféricas e centrais) foram comentados. No presente artigo (parte II), o grupo III (outros tipos de paralisia facial) é abordado. Composto por sete fenótipos clínicos, esse grupo de prosopoplegias abrange desde a paralisia facial congênita, passando pelas paralisias faciais ramusculares e segmentares, até concluir com as paralisias faciais psicogênicas.

In two articles, the authors comment on aspects of seventeen facialparalysis/paresis types subdivided into three groups. The first article (part I) addressed the first two groups of facial paralysis (peripheral and central). At present (part II), group III (other types of facial paralysis) is approached. Composed of seven clinical phenotypes, this group ranges from congenital facial palsy, passing by branches and segmental facial paralysis, and concludes with conversive facial paralysis.

A rare case of Moebius sequence.

We report a case of an 18-year-old male who presented with watering and inability to close the left eye completely since 6 months and inability to move both eyes outward and to close the mouth since childhood. Ocular, facial, and systemic examination revealed that the patient had bilateral complete lateral rectus and bilateral incomplete medial rectus palsy, left-sided facial nerve paralysis, thickening of lower lip and inability to close the mouth, along with other common musculoskeletal abnormalities. This is a typical presentation of Moebius syndrome which is a very rare congenital neurological disorder characterized by bilateral facial and abducens nerve paralysis. This patient had bilateral incomplete medial rectus palsy which is suggestive of the presence of horizontal gaze palsy or occulomotor nerve involvement as a component of Moebius sequence.

Síndrome de Moebius: descripción de una serie de 6 casos / Moebius syndrome: description of a 6 cases series

La parálisis facial y del nervio abducens congénita fue descrita como entidad clínica en 1888. Esta definición se amplió a parálisis facial unilateral o bilateral completa o incompleta, limitación de abducción ocular, disfunción de otros pares craneales, defectos oro-faciales, músculoesqueléticos y del desarrollo. Los criterios de diagnóstico varían y la entidad sigue siendo subdiagnosticada. El objetivo de este trabajo es caracterizar el cuadro clínico de pacientes con diagnóstico de Síndrome de Moebius, a través de la revisión de seis casos en control en dos Policlínicos de Neurología Infantil. En este grupo, fueron motivo de consulta: falta de esfuerzo respiratorio, hipomimiafacial, trastorno de alimentación. En dos casos hubo uso de misoprostrol durante el embarazo. Los hallazgos del examen incluyeron parálisis facial bilateral (5), unilateral (1), alteración bilateral de abducción ocular (6). Otras malformaciones asociadas fueron: paladar alto, microretrognatia, fisurapalatina, criptorquidia, polidactilia bilateral y pie bot. El conocimiento extendido de las características mínimas para el diagnóstico y de la variedad de manifestaciones de el Síndrome de Moebius, facilitan su reconocimiento y tratamiento oportuno.

Congenital facial and abducens nerves palsy were first described as a clinical entity in 1888. Later the definition was expanded to unilateral or bilateral facial palsy, limitation of ocular abduction, other cranial nerves involvement, orofacial, musculoskeletal or developmental defects. Diagnostic criteria vary among authors and the condition remains probably underdiagnosed. The aim of this study is to characterize the clinical features of Moebius Syndrome in a group of six patients diagnosed and controlled at two Child Neurology Outpatients Clinics. In this group, the main complaint at first consultation was: lack of respiratory effort, facial hypomimia, eating disorder. The use of misoprostol during pregnancy was identified in two cases. Findings on physical examination included bilateral (5) and unilateral (1) facial palsy, bilaterally impaired conjugate gaze (6).Other associated findings were: high palate, microretrognathia, cleft palate, polydactyly, bilateral cryptorchidism and clubfoot. The extended knowledge of minimal criteria required for Moebius Syndrome diagnosis, as well as other associated features, will facilitate recognition and timely treatment.

Síndrome de Moebius-Poland: relato de caso e revisão bibliográfica / Moebius-Poland syndrome: case report and literature review

A síndrome de Poland tem etiologia desconhecida, e está relacionada à embriogênese da quinta à oitava semana de gestação, principalmente devido a malformações dos vasos sanguíneos, gerando distúrbios no desenvolvimento osteomuscular. No caso da síndrome de Moebius, cogita-se causa genética ligada ao cromossomo X, utilização de substâncias teratogênicas e abortivas durante a gravidez e diminuição da irrigação sanguínea com isquemia e necrose dos vasos sanguíneos do tronco cerebral, causando deformidades neurofuncionais ao feto. Alguns autores acreditam que as duas síndromes são independentes; outros, que são variações de uma mesma condição. As duas síndromes juntas formam um conjunto de sinais relacionados, como: deformidades ósseas e musculares, hipoplasias, agenesias, paralisias e disfunções dos pares cranianos, acompanhado de deficiência mental e disfunções respiratórias. O caso relatado conta com uma variedade de sintomas que caracterizam essas síndromes

Of unknown etiology, Poland’s syndrome is related to the embryogenesis in the fifth to eighth week of gestation, mainly due to malformations of blood vessels causing disorders in the musculoskeletal development. In the case of Moebius syndrome, possible etiologies include a X-linked chromosomal disorder, use of abortive and teratogenic substances during pregnancy, and decreased blood flow with ischemia and necrosis of blood vessels in the brainstem, causing neurofunctional deformities in the fetus. While some authors believe that the two syndromes are independent, others think that they are variations of the same condition. The two syndromes together form a set of related signals, such as muscle and bone deformities, hypoplasias, agenesis, paralysis and disorders of the cranial nerves, accompanied by mental retardation and respiratory disorders. This case has a variety of symptoms that characterize these syndromes

Síndrome de Moebius / Moebius Syndrome

A síndrome ou seqüência de Moebius, inicialmente descrita por Von Graaefe, em 1880, consiste de paralisia congênita parcial ou completa do VII par craniano, comumente associada à paralisia do nervo abducente e menos freqüentemente a outros pares de nervos cranianos. Em sua etiologia, embora ainda obscura, é sabido que há relevante associação com o uso da droga misoprostol, no primeiro trimestre da gravidez. Os autores descrevem os aspectos clínicos, enfatizando as alterações ortopédicas, de 28 pacientes portadores da síndrome de Moebius e a sua relação com o uso do misoprostol. Das 28 genitoras, 14 relataram o uso dessa substância no primeiro trimestre de gravidez. Foi encontrado em todos os casos estudados comprometimento, parcial ou total, do VII e do VI paresm de nervos cranianos. Associação com síndrome de Poland foi vista em um paciente; 25 pacientes apresentaram alguma deformidade ortopédica, sendo o pé torto a mais comum. Pode-se observar que essa síndrome apresenta expressividade heterogênea e que o uso do misoprostol é um potente fator etiológico