Moebius Syndrome Research Articles

Endoscopic third ventriculostomy may have long term efficacy in low birth weight preterm newborns

AbstractEndoscopic third ventriculostomy (ETV) is an established treatment for hydrocephalus and is an alternative method avoiding shunts and its complications. There is still controversy regarding the higher risk of failure in younger infants. NARF was a male preterm newborn of 33 weeks old, with Moebius syndrome and 1,800 grams at birth. Detailed neonatal evaluation revealed hydrocephalus with bilateral ventricular index of 0.6. It was then decided, in spite of prematurity and low birth weight to perform ETV with the age of 25 days, with 1,850 grams. After discharge, follow-up was lost due to family moving to another city. By chance, after seven years child returned to our medical facility and a follow-up magnetic resonance revealed pervious ETV with high flow, demonstrating functionality of ventriculostomy. Patient's age and etiology of hydrocephalus are the most important factors influencing the success rate of ETV. Recently, the age between 6 months and 1 year old became a cutoff below which failure rates are reported to be particularly high and there are dichotomized experience. The results in low birth weight and preterm infants is not widely known and can be poor. Our case illustrates a successful ETV in a both preterm and low birth weight newborn and a satisfactory long term result, reinforcing the security and efficacy of ETV even in newborns.

G110(P) Facial Nerve Palsy in Moebius Sequence – Can Practise Make Perfect?

Moebius Sequence or Syndrome (MBS) is an extremely rare (∼0.002% of births) congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include deafness and...

Fatal Recrudescence of Malignant Hyperthermia in an Infant with Moebius Syndrome

Background and objectivesMalignant hyperthermia (MH) is a pharmacogenetic skeletal muscle disorder characterized by a hypermetabolic state after anesthesia with succinylcholine and/ or volatile anesthetics. Various neuromuscular syndromes are associated with susceptibility; however, Moebius syndrome has not been reported. Dantrolene is the drug of choice for treatment. Recurrence may occur in up to 20% of cases after the initial event treatment. Case ReportMale infant, fi rst twin, 7 months old, weighing 6.5kg and presenting with Moebius syndrome was admitted for clubfoot repair. The patient had MH after exposure to sevoflurane and succinylcholine, which was readily reversed with dantrolene maintained for 24 hours. Ten hours after dantrolene discontinuation, there was recrudescence of MH that did not respond satisfactorily to treatment, and the patient died. DiscussionMusculoskeletal disorders in children are associated with increased risk of developing MH, although Moebius syndrome has not yet been reported. Dantrolene is the drug of choice for treating this syndrome; prophylaxis is indicated during the fi rst 24–48 hours of the episode onset. The main risk factors for recurrence are muscular type, long latency after anesthetic exposure, and increased temperature. The child had only one risk factor. This case leads us to reflect on how we must be attentive to children with musculoskeletal disease and maintain treatment for 48 hours

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant

BackgroundWe report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly, plagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rotated ears, torticollis, hypoplastic genitalia and faulty foot posture. Parents were consanguineous.Methods and resultsComputed tomography and magnetic resonance imaging showed bilateral single widened cochlear turn, narrowing of the internal auditory canal, and bilateral truncation of the vestibulo-cochlear nerve. Microarray analysis and next generation sequencing showed a homozygous deletion of chromosome 5q31.1 spanning 115.3 kb and including three genes: NEUROG1 (encoding neurogenin 1), DCNP1 (dendritic cell nuclear protein 1, C5ORF20) and TIFAB (TIFA-related protein). The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder.ConclusionsBased on reported phenotypes of neurog1 null mutant mice and other vertebrates, we strongly propose NEUROG1 as the causative gene in this boy. The human NEUROG1 resides within the DFNB60 locus for non-syndromic autosomal recessive deafness on chromosome 5q22-q31, but linkage data have excluded it from being causative in the DFNB60 patients. Given its large size (35 Mb, >100 genes), the 5q22-q31 area could harbor more than one deafness gene. We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder including cranial nerves V and VIII.

Diagnostic ophthalmologic findings in Moebius syndrome

Moebius syndrome is defined as congenital facial nerve palsy combined with abduction deficit. To precisely characterize the clinical phenotype beyond these minimum diagnostic criteria, we evaluated participants at consecutive Moebius Syndrome Foundation conferences.

One-Stage Reconstruction for Bilateral Möbius Syndrome

Möbius syndrome (MS) can present with unilateral or bilateral facial paralysis. In performing 1-stage bilateral MS facial reanimation, we used bilateral spinal accessory (XI) nerves to innervate 2 free functional muscle transfers (FFMTs). Of 12 MS patients, 6 had bilateral facial paralysis. Bilateral gracilis were transferred and innervated using bilateral XI nerves. Results were evaluated using smile excursion score, cortical adaptation stage, and patient satisfaction questionnaire. In all, 13 FFMTs were performed (with 1 gracilis failure). Mean smile excursion score improved from 0.7 to 3.4 (out of 5) postoperatively. Four patients achieved spontaneous smile, 1 achieved independent smile, and 1 achieved dependent smile. Mean satisfaction score was 2.8 (out of 5). One-stage bilateral FFMTs neurotized by bilateral XI nerves are effective in treating bilateral MS patients. Careful patient selection, adequate neurologic and psychologic examination, and postoperative smile training are all important factors in achieving optimal outcomes.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Missense mutations in TUBB3, the gene that encodes the neuronal-specific protein β-tubulin isotype 3, can cause isolated or syndromic congenital fibrosis of the extraocular muscles, a form of complex congenital strabismus characterized by cranial nerve misguidance. One of the eight TUBB3 mutations reported to cause congenital fibrosis of the extraocular muscles, c.1228G>A results in a TUBB3 E410K amino acid substitution that directly alters a kinesin motor protein binding site. We report the detailed phenotypes of eight unrelated individuals who harbour this de novo mutation, and thus define the 'TUBB3 E410K syndrome'. Individuals harbouring this mutation were previously reported to have congenital fibrosis of the extraocular muscles, facial weakness, developmental delay and possible peripheral neuropathy. We now confirm by electrophysiology that a progressive sensorimotor polyneuropathy does indeed segregate with the mutation, and expand the TUBB3 E410K phenotype to include Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), stereotyped midface hypoplasia, intellectual disabilities and, in some cases, vocal cord paralysis, tracheomalacia and cyclic vomiting. Neuroimaging reveals a thin corpus callosum and anterior commissure, and hypoplastic to absent olfactory sulci, olfactory bulbs and oculomotor and facial nerves, which support underlying abnormalities in axon guidance and maintenance. Thus, the E410K substitution defines a new genetic aetiology for Moebius syndrome, Kallmann syndrome and cyclic vomiting. Moreover, the c.1228G>A mutation was absent in DNA from ∼600 individuals who had either Kallmann syndrome or isolated or syndromic ocular and/or facial dysmotility disorders, but who did not have the combined features of the TUBB3 E410K syndrome, highlighting the specificity of this phenotype-genotype correlation. The definition of the TUBB3 E410K syndrome will allow clinicians to identify affected individuals and predict the mutation based on clinical features alone.

Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum

Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum.

Surgical techniques for smile restoration in patients with Mobius syndrome

Möbius syndrome is a congenital condition, the etiology when is not associated with misoprostol is not well defined. Signs and symptoms include difficulty swallowing, speech problems, drooling, strabismus, limitation of eye movement and more importantly, the facial blankness that these individuals have, result of the facial paralysis, due to atrophy of the cranial nerves that are involved in this condition. The ability to express emotions is affected and are considered “children without a smile.” There is currently no treatment to solvent the birth defects, the treatment options for reduce these alterations is the surgical option that has as main objective to restore muscle function through various techniques, used as required, the possibilities of applying them, is taking into consideration the outcome of the procedure to execute. Among the surgical techniques used mainly: the lengthening myoplasty of the temporal muscle,muscle transfers, cross-facial grafting, neurorrhaphy and nerve transposition, of which latter are the best performers, giving the patient a more natural, in as far as regards expression and function. Key words:Möbius syndrome, surgery, smile, facial nerve, muscle transfer, transfer nerve, temporalis muscle.

Orthognathic surgery for the complete rehabilitation of Moebius patients: Principles, timing and our experience

Moebius syndrome is a rare disorder found in approximately 1/100,000 neonates and the treatment of facial palsy is now well established worldwide and consists of free-muscle transplants reinnervated with motor nerves. Dentofacial deformities are often detected in Moebius patients, and different degrees of micrognathia are often present, particularly in patients with complete expressions of Moebius syndrome.However only two published reports have described the surgical treatment of such anomalies in these patients; in both cases, the suggested approach consisted of orthognathic surgery followed by soft-tissue management.In this paper we discuss the indications and correct timing of orthognathic surgery and suggest to perform facial animation at an early age and then to wait for the completion of maxillofacial skeletal growth before performing orthognathic surgery. Finally, facial animation should precede orthognathic surgery in adult patients to prevent lower lip deformities and to ensure more predictable and satisfactory results.

Distal Airway Lesions in Mandibular Distraction Patients

Objective: 1) Determine prevalence and type of synchronous airway lesions (SALs) in patients undergoing mandibular distraction osteogenesis (MDO) at Children’s Memorial Hospital. 2) To determine whether these SALs affect surgical success of MDO in relieving airway obstruction. Method: Restrospective review of patients with micrognathia undergoing MDO and direct laryngoscopy and bronchoscopy (DLB) over a period of 11 years (2001-2011) at a tertiary care pediatric hospital. Charts were reviewed for demographics, prevalence/type of SALs, success rate for airway improvement for MDO, and coexisting medical and craniofacial conditions. Results: Eighteen patients were found who had undergone both MDO and DLB. The incidence of at least 1 SAL was 77.8%. Types of SALs encountered include laryngeal edema (61.1%), tracheobronchitis (50%), laryngomalacia (38.9%), tracheomalacia (16.7%), bronchomalacia (16.7%), subglottic stenosis (11.1%), pulsatile airway compression (11.1%), posterior laryngeal cleft (0%), and subglottic cysts (0%). 94.4% of MDO patients received tracheostomy, and 88.9% had airway improvement following MDO. Craniofacial anomalies include micrognathia (100%), cleft palate (61.1%), midface hypoplasia (33.3%), craniosynostosis (5.6%), choanal stenosis/atresia (5.6%), pyriform aperture stenosis (5.6%), and macroglossia (0%). Baseline medical characteristics/syndromes include Pierre Robin sequence (61.1%), Nager syndrome (11.1%), Stickler syndrome (11.1%), asthma (11.1%), Goldenhar syndrome (11.1%), arthrogryposis (5.6%), Mobius syndrome (5.6%), and Cornelia de Lange syndrome (5.6%). Conclusion: There is a high rate of SALs in patients undergoing MDO. The most common SALs are laryngeal edema, tracheobronchitis, and laryngomalacia. MDO is highly successful in relieving upper airway obstruction in micrognathic patients despite the high incidence of SALs. DLB should be considered in all patients who require MDO.

Moebius Syndrome and Hydrosyringomyelia

The diagnosis of Moebius syndrome, a rare congenital disorder, is primarily based on congenital facial and abducent nerve palsy. Involvement of other cranial nerves is also common. Occasionally the V, X, XI, and XII cranial nerves are involved, resulting in a difficulty to chew, swallow, and cough, which often leads to respiratory complications. Mental retardation and autism have been reported in some cases. Moebius syndrome can be associated with orofacial anomalies and limb malformations. The authors describe a patient with a confirmed diagnosis of Moebius syndrome associated with hydrosyringomyelia. No case of Moebius syndrome involving primarily the spinal cord has been reported so far. This patient did not present with other factors directly linked to syringomyelia.

Characteristics of REM sleep behavior disorder in childhood.

To describe our experience regarding the clinical and polysomnographic features of REM sleep behavior disorder (RBD) in childhood. This was a retrospective chart review of children and adolescents with RBD and REM sleep without atonia. Demographics, and clinical and polysomnographic information were tabulated. Our findings were compared with those in the existing literature. The 15 subjects identified (13 RBD and 2 having REM sleep without atonia) had a mean age at diagnosis of 9.5 years (range 3-17 years); 11/15 (73%) were male. Nightmares were reported in 13/15 and excessive daytime sleepiness in 6/15. Two children had caused bodily harm to bedmate siblings. Comorbidities, which were multiple in some subjects, included anxiety (8/15), attention deficit disorder (10/15), nonspecific developmental delay (6/15), Smith-Magenis syndrome (1/15), pervasive developmental disorder (1/15), narcolepsy (1/15), idiopathic hypersomnia (1/15), and Moebius Syndrome (1/15). Abnormal MRI scans were seen in 5/8 evaluated subjects. Treatments consisted of clonazepam (10/15), melatonin (2/15), and discontinuation of a tricyclic agent (1/15), with a favorable response in 11 of 13. Two of 15 patients with REM sleep without atonia did not require pharmacotherapy. RBD in children may be associated with neurodevelopmental disabilities, narcolepsy, or medication use. It seems to be modestly responsive to benzodiazepines or melatonin. The etiology is distinct from that of common childhood arousal parasomnias and RBD in adults; congenital and neurodevelopmental disorders, medication effect, and narcolepsy coexisted in some, but none had an extrapyramidal neurodegenerative disorder.

Möbius Syndrome: characterization of children treated in an institution in Fortaleza-CE

Möbius Syndrome: characterization of children treated in an institution in Fortaleza-CE

607 X- Linked Agammaglobulinemia and Moebius Syndrome, First Case Reported

BackgroundTo know the association between X-linked Agammaglobulinemia and Moebius Syndrome. The X-linked Agammaglobulinemia or Bruton disease, is characterized by the absence of B cells and decreased serum immunoglobulin. The defective gen codes a tyrosincinasa protein: Btk. Moebius Syndrome is a congenital facial palsy with impairment of ocular abduction, by a craniofacial dysmorphism and limb-abnormalities.MethodsReview Medical Records in a patient with Diagnosis of Bruton Disease and Moebius Syndrome and review of cases in the literature. Case: Male patient, 15 years of age, a first borne from a normally evolved pregnancy, and no consanguinity data. There were some craniofacial dysmorphic features observed; severe lagofthalmus, lack of palpable lymph nodes and tonsils, difficulty swallowing, facial palsy, syndactyly, talipes equinovarus. Diagnosis is established as Moebius Syndrome by the department of genetics. Relatives have presented similar problems: 2 aunts and 2 uncles related to his mother had died prior to the first year of life with no specified cause. Almost since he became 3 years of age, has shown symptoms of rhinosinusitis, pneumonia, osteomyelitis in right knee caused by several pathogens as S. aureus and H. Influenzae, lack of weight and length, and multiple stays at the hospital. Serum IgG was 37.3 mg/dL, IgA < 23 mg/dL, IgM < 17.9 mg/dL, IgE < 14.2 IU/mL. The total lymphocytes (cells/Microliter) were 3203; T lymphocytes 80%, CD8 44%, CD4 34%, ratio CD4/CD8 0.78, CD56 8%, CD19 0 %, CD20 2%, CD22 2%. Treatment begins with intravenous gammaglobulin in replacement dosage.ResultsAccording to review the literature and data base, Mendelian Inheritance in Man, from the Johns Hopkins University, there is not known association between Bruton Disease and Moebius Syndrome. However, we consider important to report the coexistence of these diseases in one single patient. The karyotype should be studies in order to determine in a more objective way the probable link between both.ConclusionsSince there are not previous reports of the association between X-linked Agammaglobulinemia and Moebius Syndrome this might set the precedent for a better knowledge and its implications to the future.

Social interaction experiences of adults with Moebius Syndrome: A focus group

This focus group study explored the social interaction experiences and strategies of 12 adults with Moebius Syndrome, a rare congenital condition characterized by facial paralysis. Content analysis revealed five themes of social functioning: social engagement/disengagement; resilience/sensitivity; social support/stigma; being understood/misunderstood; and public awareness/lack of awareness of Moebius Syndrome. Participants used compensatory expressive strategies such as vocal tone, gestures, and humor. The combination of being unable to express oneself with the face, having a facial difference, and having a rare disease is particularly stigmatizing. Increasing public awareness and developing social skills programs for people with facial paralysis could facilitate social functioning.

Gestural coupling and social cognition: Möbius Syndrome as a case study.

Social cognition researchers have become increasingly interested in the ways that behavioral, physiological, and neural coupling facilitate social interaction and interpersonal understanding. We distinguish two ways of conceptualizing the role of such coupling processes in social cognition: strong and moderate interactionism. According to strong interactionism (SI), low-level coupling processes are alternatives to higher-level individual cognitive processes; the former at least sometimes render the latter superfluous. Moderate interactionism (MI) on the other hand, is an integrative approach. Its guiding assumption is that higher-level cognitive processes are likely to have been shaped by the need to coordinate, modulate, and extract information from low-level coupling processes. In this paper, we present a case study on Möbius Syndrome (MS) in order to contrast SI and MI. We show how MS—a form of congenital bilateral facial paralysis—can be a fruitful source of insight for research exploring the relation between high-level cognition and low-level coupling. Lacking a capacity for facial expression, individuals with MS are deprived of a primary channel for gestural coupling. According to SI, they lack an essential enabling feature for social interaction and interpersonal understanding more generally and thus ought to exhibit severe deficits in these areas. We challenge SI's prediction and show how MS cases offer compelling reasons for instead adopting MI's pluralistic model of social interaction and interpersonal understanding. We conclude that investigations of coupling processes within social interaction should inform rather than marginalize or eliminate investigation of higher-level individual cognition.

Anesthetic Management of a Case with Moebius Syndrome

ABSTRACT Moebius syndrome is neurological disease of unknown etiology which is characterized by bilateral and unilateral facial and abducens nerve congenital paralysis. This syndrome usually presents with intubation difficulty due to the craniofacial anomaly and surgical interventions are required for treatment of inadequate chewing, swallowing, coughing reflex and hypotonicity, aspiration and respiratory problems. The aim of this case report is to present anesthesia technique during the extraction of 19 tooth in 2.5-year-old girl with severe hypotonia and possible difficult intubation due to craniofacial anomaly. How to cite this article Arpaci H, Kadioglu MN, Tuzuner-Oncul AM. Anesthetic Management of a Case with Moebius Syndrome. Int J Exper Dent Sci, 2012;1(1):37-39.

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.

A neonate with Poland-Mobius syndrome.

Poland-Mobius syndrome is a combination of two rare congenital syndromes characterized by congenital facial weakness, loss of abduction of eyes, limb defects, and absence or hypoplasia of the pectoral muscles. A patient with features of both the Mobius syndrome and the Poland syndrome is presented in this case report.