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 myokymia in inherited peripheral nerve hyperexcitability syndrome.

Peripheral nerve hyperexcitability syndrome comprises a heterogeneous group of diseases, clinically characterised by myokymia, fasciculation, muscle cramps and stiffness. The causes are either immune mediated or non-immune mediated. Non-immune-mediated forms are mostly genetic, relating to two main genes: KCNQ2 and KCNA1 Patients with KCNQ2 gene mutations typically present with epileptic encephalopathy, benign familial neonatal seizures and myokymia, though occasionally with purely peripheral nerve hyperexcitability. We report a woman with marked facial myokymia and distal upper limb contractures whose mother also had subtle facial myokymia; both had the c.G620A (p.R207Q) variant in the KCNQ2 gene. Patients with familial myokymia and peripheral nerve hyperexcitability syndrome should be investigated for KCNQ2 variants. This autosomal dominant condition may respond to antiepileptic medications acting at potassium channels.

Tympanic-mastoid and parotid schwannomas of the facial nerve: clinical presentation related to the anatomic site of origin.

Objective: To describe the clinical presentation of the facial nerve schwannomas according to the anatomical site of origin. Method: A retrospective study in which the clinical presentation, diagnostic protocol and treatment of facial nerve tumors in adults was evaluated. Results: We found 6 cases, 4 cases of tympanic-mastoid location at the spectrum of its possible clinical presentation: from symptomatic cases with facial paralysis, to an asymptomatic case in the tympanic portion found as intraoperative finding; and also found two cases located at the parotid gland, one with complete facial paralysis and one without facial palsy. Conclusions: For the diagnosis of intratemporal and parotid schwannomas of the facial nerve, a high clinical suspicion is required given its heterogeneous presentation; its clinical course depends on the segment of origin and expansion: more frequently asymptomatic at the tympanic horizontal portion and symptomatic at the mastoid vertical portion. These tumors must be assessed with imaging studies, incisional biopsy is not recommended. The treatment is surgical resection in symptomatic patients with facial paralysis greater than grade III of House-Brackmann, with immediate reconstruction of the nerve.

Objetivo: Describir la presentación clínica de los schwannomas del nervio facial de acuerdo con el sitio anatómico de origen. Método: Se realizó un estudio retrospectivo en el que se evaluó la presentación clínica, el protocolo diagnóstico y el tratamiento de tumores del nervio facial en adultos. Resultados: Se encontraron seis casos, cuatro de ellos de localización tímpano-mastoidea en los extremos de su posible presentación clínica: desde casos sintomáticos con parálisis facial, hasta un caso asintomático de la porción timpánica encontrado como hallazgo transoperatorio; y se encontraron dos casos de localización parotídea, uno con parálisis facial completa y otro sin parálisis facial. Conclusiones: Para el diagnóstico de tumores intratemporales y parotídeos del nervio facial se requiere una elevada sospecha clínica dado lo heterogéneo de su presentación; su curso clínico depende del segmento de origen y de su extensión: más frecuentemente son asintomáticos los de la porción timpánica y son sintomáticos los de la porción mastoidea. Estos tumores deben evaluarse con estudios de imagen; no se recomienda realizar biopsia incisional. El tratamiento es la resección quirúrgica en los casos sintomáticos con parálisis facial de grado IV o mayor de House-Brackmann, con reconstrucción inmediata del nervio.

Facial nerve hemangioma in the middle ear.

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.

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.

Lagophthalmos.

Lagophthalmos is the incomplete or defective closure of the eyelids. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main cause of lagophthalmos is facial nerve paralysis (paralytic lagophthalmos), but it also occurs after trauma or surgery (cicatricial lagophthalmos) or during sleep (nocturnal lagophthalmos). The main cause for paralytic lagophthalmos is Bell's palsy but it may be secondary to trauma, infections, tumors, and many other conditions. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function. It is equally important for the patient to regain a cosmetically acceptable appearance. Clinical treatment includes lubricant drops and ointments. Surgical procedures include dynamic and static techniques. The decision about the most appropriate method for reconstruction depends on the location, extent, degree and duration of paralysis, etiology, patient's age, health, and expectations. The indications and technical steps of the most used static procedures are described in this review.

Posterior fossa gangliocytoma with facial nerve invasion: case report.

A 5 year-old boy with a cerebellar gangliocytoma with a peripheral right facial paresis and ataxia is presented. His MRI showed a heterogenous, diffuse lesion, isointense on T1 and hyperintense on T2-weigthed sequences, involving the right cerebellar hemisphere with direct extension into the right facial nerve. The present case is the first description of a gangliocytoma with direct facial nerve invasion, as demonstrated for the facial nerve paresis and supported by MRI and surgical inspection.

[Hemifacial spasm: study using magnetic resonance angiography]. / Espasmo hemifacial: estudo pela angiografia por ressonância magnética.

Nine patients with "idiopathic" hemifacial spasm were evaluated with cranial magnetic resonance imaging and angiography. Alterations of the posterior fossa vasculature, possibly related to the facial nerve irritation, were found in 8 patients (88%). Magnetic resonance angiography is a noninvasive procedure and appears to be a sensitive method to evaluate the hemifacial spasm etiology.

Facial paralysis: traumatic neuromas vs. facial nerve neoplasms.

Traumatic neuromas (TN) are benign proliferations of neural tissue that may occur without disruption of the facial nerve. The clinical presentation, as well as the radiographic appearance, may suggest neoplastic involvement of the facial nerve. Histologically, they may closely resemble neurilemomas (Schwannomas) or neurofibromas. Three cases of TN of the facial nerve associated with facial paralysis are presented here. Unlike previously reported cases, these tumors were not associated with chronic inflammatory middle ear disease. TN must be considered in the differential diagnosis and treatment of facial paralysis.