-
Journal of Plastic, Reconstructive &... Jan 2022Facial paralysis may result in significant functional, esthetic, and psychological morbidity. Mobius syndrome is a form of bilateral congenital facial paralysis that is...
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.
Topics: Bell Palsy; Eyelids; Facial Nerve; Facial Paralysis; Feasibility Studies; Humans; Mandibular Nerve; Mobius Syndrome; Nerve Transfer
PubMed: 34305023
DOI: 10.1016/j.bjps.2021.05.059 -
American Journal of Medical Genetics.... Nov 2023Moebius syndrome is a congenital cranial dysinnervation disorder (CCDD) that presents with nonprogressive cranial nerve (CN) VI and VII palsies resulting in facial...
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.
PubMed: 37675855
DOI: 10.1002/ajmg.a.63389 -
BMC Anesthesiology Oct 2022Moebius syndrome is a rare congenital disorder characterized by non-progressive palsy of the abducens (VI) and facial (VII) cranial nerves. Its common features include...
BACKGROUND
Moebius syndrome is a rare congenital disorder characterized by non-progressive palsy of the abducens (VI) and facial (VII) cranial nerves. Its common features include dysfunctions associated with other cranial nerves, orofacial abnormalities, skeletal muscle hypotonia, and other systemic disorders of differing severities. There are several concerns in the perioperative management of patients with Moebius syndrome.
CASE PRESENTATION
We present a report on the management of general anesthesia of a 14-year-old male patient with Moebius syndrome who was scheduled for mandibular cystectomy. The patient was diagnosed with Moebius syndrome at the age of 7 years based on his clinical manifestations of nerve palsy since birth and cranial nerve palsy of the trigeminal (V), facial (VII), glossopharyngeal (IX), vagus (X), and sublingual nerves (XII). The patient's oral morphological abnormalities made intubation difficult. He also experienced dysphagia and aspiration pneumonia on a daily basis. Oral secretions were frequently suctioned postoperatively. However, after discharge, the patient developed aspiration pneumonia and was readmitted to the hospital.
CONCLUSIONS
The main problem arising when administering general anesthesia to patients with this syndrome is difficult airway management. The oral abnormalities in these patients, such as small jaw and extreme dental stenosis, make mask ventilation and intubation difficult. Furthermore, this syndrome often involves respiratory impairment and dysphagia due to cerebral nerve palsy, so there is a high risk of postoperative respiratory complications. Since multiple organs are affected in patients with Moebius syndrome, appropriate perioperative management strategies must be prepared for these patients.
Topics: Adolescent; Child; Deglutition Disorders; Humans; Intubation, Intratracheal; Male; Mobius Syndrome; Paralysis; Pneumonia, Aspiration
PubMed: 36221060
DOI: 10.1186/s12871-022-01859-3 -
Cortex; a Journal Devoted To the Study... Dec 2023Humans rely heavily on facial expressions for social communication to convey their thoughts and emotions and to understand them in others. One prominent but...
Humans rely heavily on facial expressions for social communication to convey their thoughts and emotions and to understand them in others. One prominent but controversial view is that humans learn to recognize the significance of facial expressions by mimicking the expressions of others. This view predicts that an inability to make facial expressions (e.g., facial paralysis) would result in reduced perceptual sensitivity to others' facial expressions. To test this hypothesis, we developed a diverse battery of sensitive emotion recognition tasks to characterize expression perception in individuals with Moebius Syndrome (MBS), a congenital neurological disorder that causes facial palsy. Using computer-based detection tasks we systematically assessed expression perception thresholds for static and dynamic face and body expressions. We found that while MBS individuals were able to perform challenging perceptual control tasks and body expression tasks, they were less efficient at extracting emotion from facial expressions, compared to matched controls. Exploratory analyses of fMRI data from a small group of MBS participants suggested potentially reduced engagement of the amygdala in MBS participants during expression processing relative to matched controls. Collectively, these results suggest a role for facial mimicry and consequent facial feedback and motor experience in the perception of others' facial expressions.
Topics: Humans; Facial Expression; Emotions; Mobius Syndrome; Facial Paralysis; Perception; Facial Recognition; Social Perception
PubMed: 37852041
DOI: 10.1016/j.cortex.2023.08.014 -
Pediatric Neurology Apr 2024Moebius syndrome (MBS) is a congenital cranial dysinnervation disorder (CCDD) characterized by a bilateral palsy of abducens and facial cranial nerves, which may coexist... (Review)
Review
Moebius syndrome (MBS) is a congenital cranial dysinnervation disorder (CCDD) characterized by a bilateral palsy of abducens and facial cranial nerves, which may coexist with other cranial nerves palsies, mostly those found in the dorsal pons and medulla oblongata. MBS is considered a "rare" disease, occurring in only 1:50,000 to 1:500,000 live births, with no gender predominance. Three independent theories have been described to define its etiology: the vascular theory, which talks about a transient blood flow disruption; the genetic theory, which takes place due to mutations related to the facial motor nucleus neurodevelopment; and last, the teratogenic theory, associated with the consumption of agents such as misoprostol during the first trimester of pregnancy. Since the literature has suggested the existence of these theories independently, this review proposes establishing a theory by matching the MBS molecular bases. This review aims to associate the three etiopathogenic theories at a molecular level, thus submitting a combined postulation. MBS is most likely an underdiagnosed disease due to its low prevalence and challenging diagnosis. Researching other elements that may play a key role in the pathogenesis is essential. It is common to assume the difficulty that patients with MBS have in leading an everyday social life. Research by means of PubMed and Google Scholar databases was carried out, same in which 94 articles were collected by using keywords with the likes of "Moebius syndrome," "PLXND1 mutations," "REV3L mutations," "vascular disruption AND teratogens," and "congenital facial nerve palsy." No exclusion criteria were applied.
Topics: Humans; Mobius Syndrome; Teratogens; Facial Nerve; Facial Paralysis; Mutation; DNA-Directed DNA Polymerase; DNA-Binding Proteins
PubMed: 38306744
DOI: 10.1016/j.pediatrneurol.2024.01.007 -
Philosophical Transactions of the Royal... Nov 2022Influential theoretical models argue that an internal simulation mechanism (motor or sensorimotor simulation) supports the recognition of facial expressions. However,...
Influential theoretical models argue that an internal simulation mechanism (motor or sensorimotor simulation) supports the recognition of facial expressions. However, despite numerous converging sources of evidence, recent studies testing patients with congenital facial palsy (i.e. Moebius syndrome) seem to refute these theoretical models. However, these results do not consider the principles of neuroplasticity and degeneracy that could support the involvement of an alternative neural processing pathway in these patients. In the present study, we tested healthy participants and participants with Moebius syndrome in a highly sensitive facial expression discrimination task and concomitant high-density electroencephalographic recording. The results, both at the scalp and source levels, indicate the activation of two different pathways of facial expression processing in healthy participants and participants with Moebius syndrome, compatible, respectively, with a dorsal pathway that includes premotor areas and a ventral pathway. Therefore, these results support the reactivation of sensorimotor representations of facial expressions (i.e. simulation) in healthy subjects, in the place of an alternative processing pathway in subjects with congenital facial palsy. This article is part of the theme issue 'Cracking the laugh code: laughter through the lens of biology, psychology and neuroscience'.
Topics: Emotions; Facial Expression; Facial Paralysis; Humans; Mobius Syndrome; Recognition, Psychology
PubMed: 36126673
DOI: 10.1098/rstb.2021.0190 -
Cureus Sep 2020Poland-Mobius syndrome is a rare congenital disorder that includes features of Poland and Mobius syndromes. It is characterized by unilateral or bilateral congenital...
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.
PubMed: 33042661
DOI: 10.7759/cureus.10215 -
Journal of Molecular Medicine (Berlin,... Mar 2021REV3L encodes a catalytic subunit of DNA polymerase zeta (Pol zeta) which is essential for the tolerance of DNA damage by inducing translesion synthesis (TLS). So far,... (Comparative Study)
Comparative Study
REV3L encodes a catalytic subunit of DNA polymerase zeta (Pol zeta) which is essential for the tolerance of DNA damage by inducing translesion synthesis (TLS). So far, the only Mendelian disease associated with REV3L was Moebius syndrome (3 patients with dominant REV3L mutations causing monoallelic loss-of-function were reported). We describe a homozygous ultra-rare REV3L variant (T2753R) identified with whole exome sequencing in a child without Moebius syndrome but with developmental delay, hypotrophy, and dysmorphic features who was born to healthy parents (heterozygous carriers of the variant). The variant affects the amino acid adjacent to functionally important KKRY motif. By introducing an equivalent mutation (S1192R) into the REV3 gene in yeasts, we showed that, whereas it retained residual function, it caused clear dysfunction of TLS in the nucleus and instability of mitochondrial genetic information. In particular, the mutation increased UV sensitivity measured by cell survival, decreased both the spontaneous (P < 0.005) and UV-induced (P < 0.0001) mutagenesis rates of nuclear DNA and increased the UV-induced mutagenesis rates of mitochondrial DNA (P < 0.0005). We propose that our proband is the first reported case of a REV3L associated disease different from Moebius syndrome both in terms of clinical manifestations and inheritance (autosomal recessive rather than dominant). KEY MESSAGES: First description of a human recessive disorder associated with a REV3L variant. A study in yeast showed that the variant affected the enzymatic function of the protein. In particular, it caused increased UV sensitivity and abnormal mutagenesis rates.
Topics: Aldose-Ketose Isomerases; Catalytic Domain; Child, Preschool; DNA; DNA, Fungal; DNA, Mitochondrial; DNA-Binding Proteins; DNA-Directed DNA Polymerase; Developmental Disabilities; Female; Homozygote; Humans; Male; Mobius Syndrome; Models, Molecular; Mutagenesis; Mutation, Missense; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Nevus, Pigmented; Pedigree; Phenotype; Point Mutation; Protein Conformation; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Skin Neoplasms; Structure-Activity Relationship; Ultraviolet Rays; Exome Sequencing
PubMed: 33474647
DOI: 10.1007/s00109-020-02033-3 -
Rheumatology International Sep 2019Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder associated with a variety of systemic presentations. Varied neurological dysfunctions of newly... (Review)
Review
Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder associated with a variety of systemic presentations. Varied neurological dysfunctions of newly diagnosed adult patients with pSS have been observed in recent years. We aimed to describe a rare case of acute bilateral facial paralysis diagnosed with pSS for the first time and review the previous studies including similar cases. A 69-year-old female, who had experienced ocular and oral dryness for more than 10 years, presented with bilateral facial palsy. Her laboratory test results showed positive anti-Ro (SSA) and anti-Ro-52 antibodies. Ophthalmic examination and test of saliva secretion verified xerophthalmia and xerostomia, respectively. Other possibilities of Lyme disease, Möbius syndrome, tumor, bilateral temporal bone fracture, Guillain-Barré syndrome, central nervous system lymphoma and HIV infection were ruled out. A diagnosis of pSS associated with bilateral facial paralysis was made. The literature review revealed one article describing a similar patient. Our case was the only one suffering from acute bilateral facial palsy without other nerve involvement. The presence of such patients reveals that pSS is an underlying cause of acute bilateral facial paralysis.
Topics: Aged; Antibodies, Antinuclear; Biomarkers; Facial Paralysis; Female; Glucocorticoids; Humans; Immunosuppressive Agents; Methotrexate; Methylprednisolone; Ribonucleoproteins; Sjogren's Syndrome; Treatment Outcome
PubMed: 31175417
DOI: 10.1007/s00296-019-04339-z -
Brain & Development Jan 2022Moebius syndrome (MBS) is a congenital disorder characterized by facial and abducens palsy, sometimes accompanied with other cranial nerve palsies and comorbid...
Moebius syndrome (MBS) is a congenital disorder characterized by facial and abducens palsy, sometimes accompanied with other cranial nerve palsies and comorbid conditions. Anatomical anomalies of the brainstem are assumed to be major etiologies of MBS. Its phenotypic presentation can be variable. We report a female patient with MBS who presented with neurogenic bladder (NB). She was born via normal vaginal delivery. At birth, she showed bilateral abducens palsy and right facial palsy. We diagnosed MBS by cranial computed tomography scan and magnetic resonance imaging. She had recurrent urinary tract infection. Hydronephrosis was noted on ultrasonography and bilateral vesicoureteral reflux (grade 5) on voiding cystourethrography. Urodynamic investigation showed detrusor overactivity and detrusor-sphincter dyssynergia, which follow the pattern of NB resulting from infrapontine-suprasacral lesions. Patients with MBS have lower brainstem dysfunction, and accordingly we should be aware of NB.
Topics: Child, Preschool; Female; Humans; Male; Mobius Syndrome; Pons; Urinary Bladder, Neurogenic; Urodynamics
PubMed: 34400011
DOI: 10.1016/j.braindev.2021.07.006