Síndrome de Moebius y ortotropía en posición primaria: ¿es infrecuente esta asociación? (Colombia) / Moebius syndrome and orthotropia in primary position: is this association uncommon? (Colombia) / Síndrome de Moebius e ortotropia em posição primária: é uma associação incomum? (Colômbia)

El síndrome de Moebius es una enfermedad congénita poco común que se caracteriza por el compromiso unilateral o bilateral del VI y VII par craneal, lo que compromete los músculos que controlan la oculomotricidad, produciendo una parálisis en la abducción del globo ocular y los músculos involucrados en la expresión facial. Su presentación clínica y grados de severidad son variables, puede presentar compromiso simétrico o asimétrico. Adicionalmente, gran parte de los casos se relacionan con trastornos del lenguaje, anomalías musculoesqueléticas y orofaciales. En el presente artículo se presenta el caso de una paciente femenina de 3 años producto de un embarazo trigemelar con diagnóstico clínico de síndrome de Moebius al nacer, confirmado por neuroimagen en la que se evidencia la ausencia bilateral del nervio facial en ángulos pontocerebelosos, adicionalmente con un defecto completo en los movimientos oculares de abducción y aducción lo que impide el estrabismo convergente común en estos pacientes.

Moebius syndrome is a rare congenital disease characterized by unilateral or bilateral involvement of the VI and VII cranial nerves, which compromises the muscles that control ocular motricity with paralysis in the abduction of the eyeball and the muscles involved in the facial expression. Its clinical presentation and degrees of severity are variable, and it can be symmetric or asymmetric. Additionally, most of the cases are related to language disorders, musculoskeletal and orofacial anomalies. This paper presents the case of a 3-year-old female patient, product of a trigemellar pregnancy with a clinical diagnosis of Moebius syndrome at birth, confirmed by neuroimaging, which shows the bilateral absence of the facial nerve in point-lateral angles. Additionally she has a complete defect in abduction and adduction eye movements, which prevents the common convergent strabismus in these patients.

A síndrome de Moebius é uma doença congênita rara caracterizada pelo envolvimento unilateral ou bilateral dos nervos cranianos VI e VII, que compromete os músculos que controlam a oculomotricidade com paralisia na abdução do globo ocular e dos músculos envolvidos na expressão facial. Sua apresentação clínica e graus de gravidade são variáveis, podendo ser um comprometimento simétrico ou assimétrico. Além disso, a maioria dos casos está relacionada a distúrbios de linguagem, anomalias musculoesqueléticas e orofaciais. Este paper apresenta o caso de uma paciente de 3 anos de idade, fruto de uma gravidez trigêmea com diagnóstico clínico de Síndrome de Moebius ao nascimento, confirmado por neuroimagem em que é evidente a ausência bilateral do nervo facial nos ângulos ponto-cerebelares. Além disso, ela tem um defeito completo nos movimentos oculares de abdução e adução, o que impede o estrabismo convergente comum nesses pacientes.

Facial nerve hemangioma in the middle ear / Hemangioma de nervo facial em orelha média

ABSTRACT Facial nerve hemangioma is a rare and benign vascular tumor, and accounts for 0.7% of intratemporal tumors. We report the second case described in the literature of a facial nerve hemangioma in its tympanic segment. A 14-year-old male patient presented with a history of progressive right ear hearing loss with preserved facial mimicry. Pure tone audiometry showed a right ear moderate conductive hearing loss. Magnetic resonance imaging demonstrated an expansive lesion involving the tympanic segment of the right facial nerve, suggestive of hemangioma. Watchful waiting was chosen as management. In the first case of middle ear facial hemangioma described in the literature, facial palsy was the symptom that led the patient to seek medical care. In the present case, it can be inferred that the first symptom was conductive hearing loss ipsilateral to the lesion. Facial palsy may not be present and the clinical presentation may resemble otosclerosis, ossicular chain disruption, and third window abnormalities, among other differential diagnoses of conductive hearing loss. The second case of tympanic portion facial nerve hemangioma is reported, describing the specificity of conductive hearing loss as its only clinical manifestation.

RESUMO O hemangioma do nervo facial é um tumor vascular raro e benigno, que corresponde a 0,7% dos tumores intratemporais. Apresentamos o segundo caso descrito na literatura de hemangioma do nervo facial em sua porção timpânica. Paciente de 14 anos, sexo masculino, apresentando hipoacusia progressiva em orelha direita com mímica facial preservada. A audiometria evidenciou perda condutiva moderada à direita. A ressonância magnética demonstrou lesão expansiva, comprometendo o segmento timpânico do nervo facial direito, sugestiva de hemangioma do nervo facial. A conduta foi expectante. No primeiro caso descrito na literatura de hemangioma do facial em orelha média, o sintoma que levou o paciente ao atendimento médico foi paralisia facial. No presente caso, pode-se inferir que o primeiro sintoma foi a perda auditiva condutiva ipsilateral à lesão. A paralisia facial pode não estar presente, e o quadro clínico pode se assemelhar à otosclerose, disjunção de cadeia e síndrome da terceira janela, dentre outros diagnósticos diferenciais de perdas auditivas condutivas. O artigo relata o segundo caso de hemangioma do nervo facial em sua porção timpânica, mostrando a peculiaridade de perda auditiva condutiva como única manifestação clínica.

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.

Gold weight implantation as a treatment measure for correction of paralytic lagophthalmos.

Ocular complications from facial nerve paralysis can be quite devastating. Facial nerve paralysis results in cosmetic as well as functional problems. Paralysis of the upper eyelids leads to lagophthalmos, which results in incomplete closure of the lid over the cornea, leading to potential complication of corneal ulceration. The management of the affected eye in patients with facial palsy has been improved. Previously, ointment, eye drops, taping, partial or complete tarsorrhaphy was the primary treatment for inability to close the eyelid. Other mechanical techniques for reanimating lid closure are palpebral springs, encircling the upper and lower eyelids with silicone or fascia lata and temporalis muscle transfer. The most popular and widely used static procedure in facial nerve palsy is the upper eyelid gold weight implant. Gold eyelid implants are designed for the gravity assisted treatment of the functional defect of lagophthalmos resulting from facial paralysis. We report a case of a patient with facial paralysis who underwent gold weight implantation of the upper eyelid for correction of paralytic lagophthalmos.