Facial Nerve Pathology in Children.

Facial nerve pathology in children has devastating functional and psychosocial consequences. Facial palsy occurs less commonly in children than adults with a greater proportion caused by congenital causes. Most pediatric patients have normal life expectancy and few comorbidities and dynamic restoration of facial expression is prioritized. This article will focus on the unique aspects of care for facial palsy in the pediatric population.

Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases.

Background: Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities. Objective: We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD. Therefore, the aim of this review is to collect symptomatic treatment approaches that target facial muscle function and psychosocial interventions in various neurological diseases with altered facial expression in order to discuss the applicability to FSHD. Methods: A systematic search was performed. Selected studies had to include FSHD, Bell's palsy, Moebius syndrome, myotonic dystrophy type 1, or Parkinson's disease and treatment options which target altered facial expression. Data was extracted for study and patients' characteristics, outcome assessment tools, treatment, outcome of facial expression and or psychosocial functioning. Results: Forty studies met the inclusion criteria, of which only three studies included FSHD patients exclusively. Most, twenty-one, studies were performed in patients with Bell's palsy. Studies included twelve different therapy categories and results were assessed with different outcomes measures. Conclusions: Five therapy categories were considered applicable to FSHD: training of (non-verbal) communication compensation strategies, speech training, physical therapy, conference attendance, and smile restoration surgery. Further research is needed to establish the effect of these therapies in FSHD. We recommend to include outcome measures in these studies that cover at least cosmetic, functional, communication, and quality of life domains.

Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.

Moebius syndrome is a congenital cranial dysinnervation disorder (CCDD) that presents with nonprogressive cranial nerve (CN) VI and VII palsies resulting in facial weakness and inability to abduct the eye(s). While many CCDDs have an underlying genetic cause, the etiology of Moebius syndrome remains unclear as most cases are sporadic. Here, we describe a pair of monochorionic, diamniotic twin girls; one with normal growth and development, and one with micrognathia, reduced facial expression, and poor feeding. Magnetic resonance imaging of the brain performed on the affected twin at 19 months of age showed severely hypoplastic or absent CN IV bilaterally, left CN VI smaller than right, and bilateral hypoplastic CN VII and IX, consistent with a diagnosis of a CCDD, most similar to that of Moebius syndrome. Genomic sequencing was performed on each twin and data was assessed for discordant variants, as well as variants in novel and CCDD-associated genes. No pathogenic, likely pathogenic, or variants of uncertain significance were identified in genes known to be associated with CCDDs or other congenital facial weakness conditions. This family provides further evidence in favor of a stochastic event as the etiology in Moebius syndrome, rather than a monogenic condition.

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.

TUBB3 E410K Syndrome With Childhood-Onset Nonalcoholic Steatohepatitis.

CONTEXT: Nonalcoholic fatty liver disease (NAFLD) is becoming a major issue worldwide, even in children. Multiple parallel hits hypothesis has been suggested as progress of NAFLD, but the mechanism of NAFLD is not completely understood. ß-Tubulin is essential in mitoses, neuronal migration, and axon guidance during neuronal development. Pathogenic variants in the TUBB3 gene were shown to be associated with a wide spectrum of neurological abnormalities, but not accompanied by hepatic complications, such as NAFLD. OBJECTIVE: This work aims to examine the association between TUBB3 mutation and nonalcoholic steatohepatitis (NASH). METHODS: An 11-year-old girl has been followed up as having atypical Möbius syndrome since infancy, as she was born with bilateral ptosis, paralytic strabismus, and facial weakness. At age 7 years, she was diagnosed with TUBB3 E410K syndrome by whole-exome sequencing. At age 10 years, her blood examination revealed elevated liver transaminase levels, which persisted for almost 2 years. She underwent liver biopsy, the results of which were suggestive of NASH. RESULTS: The expression of TUBB3 was absent, but that of tyrosine hydroxylase (TH) was present in the parenchymal nerve fibers of the liver. On the other hand, in comparison with an autopsy case of NASH and a normal control, these showed coexpression of TUBB3 and TH in the liver. CONCLUSION: We report the first case of TUBB3 E410K syndrome accompanied by NASH. This case suggests that the TUBB3 mutation may be associated with the pathogenesis and progression of NASH in humans.

Transfer of the deep temporal nerve for eyelid reconstruction in Mobius syndrome - an anatomic feasibility study and proposed surgical approach.

Facial paralysis may result in significant functional, esthetic, and psychological morbidity. Mobius syndrome is a form of bilateral congenital facial paralysis that is particularly difficult to treat owing to the lack of readily available donor nerves, particularly in the upper face. In this study, we evaluate the feasibility of using the deep temporal nerves as donors for the innervation of free muscle grafts in the periorbital region. Preserved and fresh cadaver facial halves are dissected, and the course of the deep temporal nerves delineated. We find the middle branch of the deep temporal nerve to be located consistently 4.6 cm from the posterior edge of the tragus along the zygomatic arch, giving an easily identifiable surface landmark for our donor. Finally, we outline a proposed surgical approach for using the middle deep temporal nerve to innervate a free muscle graft to the eyelids through an interpositional nerve graft.

Poland-Mobius Syndrome With Unilateral Vocal Cord Paralysis in a Neonate.

Poland-Mobius syndrome is a rare congenital disorder that includes features of Poland and Mobius syndromes. It is characterized by unilateral or bilateral congenital facial weakness, impairment of abduction of eyes, associated limb anomalies, and aplasia or hypoplasia of the pectoralis muscle. We describe a case of Poland-Mobius syndrome in a neonate associated with unilateral vocal cord immobility.

Imaging findings in Möbius-Poland syndrome.

Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence or hypoplasia of the facial or abducens nerve, either unilaterally or bilaterally. Described here is a case in a newborn male in which both conditions manifest simultaneously as Poland-Möbius syndrome. The imaging findings here serve as a useful guide for the radiologist and ordering providers by reinforcing the need for dedicated cranial nerve imaging in patients who have deficiencies in anterior chest wall musculature.

Long-term outcomes of strabismus surgery in Mobius sequence.

Purpose: Mobius sequence is a rare disorder that results from underdevelopment of the sixth and seventh cranial nerves, with subsequent facial weakness and impairment of ocular abduction. Approximately half of the affected patients have esotropia with limitation of extraocular movements. This study retrospectively reviews the long-term outcome of strabismus surgery for such patients. Methods: The long-term follow-up results in five children with Mobius sequence, who were observed after strabismus surgery for congenital esotropia, were analyzed. Results: All patients had a limitation of abduction in both eyes. Preoperative esotropia ranged from 20 to 30 prism diopters (PD) (mean 27 PD). Patient age at surgery ranged from 4.5 to 14 months. Bilateral medial rectus muscle recession was performed in all cases, ranging from 4.0 to 6.5 mm. Inferior transposition of the medial rectus muscles was performed in two patients for treatment of V-pattern, and two patients also had surgery for vertical strabismus. Follow-up ranged from 4 to 19.5 years (mean 11.7 years). The final horizontal alignment was <8 PD in all patients, and all demonstrated some binocularity. Conclusion: Bilateral medial rectus muscle recession is an effective treatment for esotropia associated with Mobius sequence, with good long-term stability.

Characterization of Hand Anomalies Associated With Möbius Syndrome.

PURPOSE: To investigate the distinguishing morphological characteristics of the upper extremities in children with Möbius syndrome. METHODS: Twenty-seven involved extremities in 14 patients with a diagnosis of Möbius syndrome were identified at 2 institutions. Medical records, radiographs, and clinical photographs were evaluated. Congenital hand differences were classified according to the Oberg, Manske, and Tonkin classification, and hands with symbrachydactyly were classified by the Blauth and Gekeler classification. The presence of other congenital anomalies was catalogued. RESULTS: There was bilateral involvement in 93% of patients with congenital hand anomalies. Twelve patients demonstrated congenital hand anomalies and 2 patients had been diagnosed with arthrogryposis. Among the 12 patients with congenital hand anomalies, 21 hands were classifiable as symbrachydactyly by the Oberg, Manske, and Tonkin classification and could be categorized by the Blauth and Gekeler classification. Short finger type was the most common subtype of symbrachydactyly, present in 13 hands. Eleven of these 13 patients (85%) were primarily affected on the radial side of the hand. Proximal arm involvement was identified in 2 patients with symbrachydactyly, both of whom had Poland syndrome and an absent pectoralis major. CONCLUSIONS: Symbrachydactyly in Möbius syndrome differs from the typical presentation of symbrachydactyly. Characteristically, there is a bilateral presentation with a strong predilection for radially based brachydactyly. These described characteristics may help the hand surgeon appropriately assess patients, especially those with radial-sided symbrachydactyly. TYPE OF STUDY/LEVEL OF EVIDENCE: Diagnostic III.

Möbius Syndrome Demonstrated by the High-Resolution MR Imaging: a Case Report and Review of Literature

Möbius syndrome is a rare congenital condition, characterized by abducens and facial nerve palsy, resulting in limitation of lateral gaze movement and facial diplegia. However, to our knowledge, there have been few studies on evaluation of cranial nerves, on MR imaging in Möbius syndrome. Herein, we describe a rare case of Möbius syndrome representing limitation of lateral gaze, and weakness of facial expression, since the neonatal period. In this case, high-resolution MR imaging played a key role in diagnosing Möbius syndrome, by direct visualization of corresponding cranial nerves abnormalities.

Management of Bilateral Facial Palsy.

Bilateral facial paralysis is a rare entity that occurs in both pediatric and adult patients and can have congenital or acquired causes. When paralysis does not resolve with conservative or medical management, surgical intervention may be indicated. This article presents the authors' preferred technique for facial reanimation in patients with bilateral congenital facial paralysis. Specifically, a staged bilateral segmental gracilis transfer to ipsilateral nerve to masseter is discussed.

Möbius syndrome: clinico-radiologic correlation.

PURPOSE: Möbius syndrome is characterized by abducens and facial nerve palsy. However, the presence/absence of corresponding cranial nerves on MRI was not fully evaluated. The purpose of this study was to investigate the mechanism of Möbius syndrome by associating the presence of abducens and facial nerves on MR imagings with clinical features. METHODS: We retrospectively reviewed the medical records and MR imagings of nine patients with Möbius syndrome between January 2004 and October 2015. The presence/absence of abducens and facial nerves on MR imaging, as well as corresponding neuro-ophthalmologic clinical features, was investigated. RESULTS: Facial palsy was bilateral in six and unilateral in three patients. Abduction was limited bilaterally in five and unilaterally in four patients. The degrees of facial palsy and abduction limitation were variable, and asymmetric even in the bilateral cases. MR imaging documented bilateral absence of the abducens and facial nerves in six, absence of unilateral facial nerve and bilateral abducens nerves in one, and absence of facial and abducens nerves unilaterally on the same side in another. Both abducens and facial nerves were visualized bilaterally only in the one remaining patient. CONCLUSIONS: The absence of abducens and facial nerves on MR imaging was mostly correlated with the findings of facial palsy and abduction limitation in patients with Möbius syndrome. MR imaging aids in diagnosis of Möbius syndrome by documenting the absence or presence of abducens and facial nerves.

Labial Incompetence in Mobius Syndrome: LeFort I Impaction Case Report and Review of Management Strategies.

Difficulty with speech intelligibility in Mobius syndrome patients due to bilabial incompetence is common yet rarely discussed. We present a patient with Mobius syndrome who underwent counterclockwise LeFort I impaction to improve her labial competence. In addition, we present a literature review of management strategies for labial incompetence correction in Mobius patients. At 7-year follow-up after LeFort 1 impaction, the patient reports improvement in speech intelligibility, specifically regarding the ability to pronounce bilabial consonants. This is the first published report of LeFort I impaction to improve labial competence and bilabial consonant pronunciation in a Mobius syndrome patient.

Möbius syndrome with cardiac rhabdomyomas.

BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis. MATERIALS AND METHODS: Observational case report of an infant seen at a tertiary academic center with genetic testing, ophthalmic, neurological, and cardiac clinical examination and imaging. RESULTS: A newborn baby boy at birth was seen with multiple congenital craniofacial malformations, and respiratory distress. He was noted to have micrognathia, retrognathia, wide nasal bridge, low set ears, high arched palate, nonreducing bilateral talipes equinovarus and bilateral large angle esotropia with -4 abduction deficit and facial palsy, findings suggestive of Möbius Syndrome. MRI of the brain was unremarkable except for syringomyelia in the cervical spine. Echocardiography showed two cardiac rhabdomyomas in the right ventricle and ulltrasound of the abdomen showed mild right hydroneprosis. Cytogenetics revealed segmental loss at 21q21.2. Testing for tuberous sclerosis was negative for deletion or duplications of genes TSC1 and TSC2. CONCLUSION: This case highlights the rare co-occurrence of cardiac rhabdomyomas with Möbius syndrome and new segmental loss at 21q21.2 on genetic testing. Findings could indicate not a "suggestion of Möbius", but rather the syndrome itself in association with cardiac defects.

Facial reanimation surgery in Möbius syndrome: Experience from 76 cases from a tertiary referral hospital in Latin America.

INTRODUCTION: Möbius syndrome is defined as a combined congenital bilateral facial and abducens nerve palsies. The main goal of treatment is to provide facial reanimation by means of a dynamic surgical procedure. The microneurovascular transfer of a free muscle transplant is the procedure of choice for facial animation in a child with facial paralysis. OBSERVATION: Between January 2008 and January 2017, 124 patients with the syndrome have been approached at our institution. Distribution according to Möbius Syndrome classification presents as follows: Complete Möbius syndrome (n=88), Incomplete Möbius syndrome (n=28), Möbius-Like syndrome (n=8). Seventy-nine female and 45 male patients. Sixty-one percent have undergone a microsurgical procedure (n=76), in all of them, a free gracilis flap transfer was performed. DISCUSSION: Our proposed treatment protocol for complete Möbius syndrome is determined by the available donor nerves. We prefer to use the masseteric nerve as first choice, however, if this nerve is not available, then our second choice is the spinal accesory nerve. For this purpose, all patients have an electromyography performed preoperatively. Overall, dynamic facial reanimation obtained through the microvascular transfer of the gracilis muscle have proved to improve notoriously oral comissure excursion and speech intelligibility. CONCLUSION: The free gracilis flap transfer is a reproducible procedure for patients with Möbius syndrome. It is of utmost importance to select the best motor nerve possible, based on an individualized preoperative clinical and electromyographic evaluation. To our best knowledge, this is the largest series of patients with Möbius syndrome globally, treated at a single-institution.

A congenital cranial dysinnervation disorder: Möbius' syndrome.

Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypoplastic fingers and finger nails on the left hand, and was diagnosed as having Möbius' syndrome. Involvement of other cranial nerves such as three, four, five, nine, 9 and 12, and limb malformations may accompany this syndrome. However, several factors have been proposed for the etiology, some rare cases have also been reported with artificial reproductive technologies. Feeding difficulties and aspiration are the main problems encountered in infancy. The other cranial nerves should be examined further in newborns who present with congenital facial palsy, and other cranial dysinnervation disorders should be considered in the differential diagnosis.

Congenital Cranial Dysinnervation Disorders: A Literature Review.

Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as congenital fibrosis syndrome, it was thought that the primary problem was extraocular muscular maldevelopment. Recent advancements in genetics and neuro-radiology have now determined the initial observation of fibrotic muscles is secondary to a primary lack of innervation from deficient, absent, or misguided cranial nerves. This presentation provides an overview of the known genes and phenotypes currently recognized within the CCDD domain. It will also highlight areas of current research being done in the area of cranial nerve development. Increased knowledge and awareness of these disorders has resulted in more research being conducted. These studies have provided a more complete understanding of efferent motor system development and are leading to improved treatment strategies for patients.

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence.

Rare features associated with Mobius syndrome: Report of two cases.

Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated. A thorough evaluation to identify the condition and establishing an adequate treatment plan is of utmost important in this condition. We are reporting clinical and radiographic features of Mobius syndrome in two cases along with unusual findings of limb and neck deformity.