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Italian Journal of Pediatrics Jun 2016Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial...
BACKGROUND
Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS.
METHODS
The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS.
RESULTS
Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits.
CONCLUSION
Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.
Topics: Abducens Nerve; Adolescent; Child; Child, Preschool; Cohort Studies; Disability Evaluation; Early Medical Intervention; Facial Nerve; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Italy; Male; Mobius Syndrome; Neuropsychological Tests; Rare Diseases; Risk Assessment; Treatment Outcome
PubMed: 27260152
DOI: 10.1186/s13052-016-0256-5 -
Journal of Neurosciences in Rural... 2016
PubMed: 27695248
DOI: 10.4103/0976-3147.186974 -
International Ophthalmology Dec 2017The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital... (Review)
Review
The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.
Topics: Cranial Nerves; Genetic Predisposition to Disease; Humans; Ocular Motility Disorders; Oculomotor Muscles
PubMed: 27837354
DOI: 10.1007/s10792-016-0388-z -
Otolaryngologic Clinics of North America Dec 2018Bilateral 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... (Review)
Review
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.
Topics: Adult; Child; Facial Nerve; Facial Paralysis; Humans; Mobius Syndrome; Muscle Denervation; Nerve Transfer; Plastic Surgery Procedures; Smiling; Surgical Flaps
PubMed: 30166122
DOI: 10.1016/j.otc.2018.07.014 -
Oral and Maxillofacial Surgery Clinics... May 2024Facial nerve pathology in children has devastating functional and psychosocial consequences. Facial palsy occurs less commonly in children than adults with a greater... (Review)
Review
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.
PubMed: 38724423
DOI: 10.1016/j.coms.2024.02.004 -
Archives of Disease in Childhood Jul 2015Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular... (Review)
Review
Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance.
Topics: Cranial Nerve Diseases; Duane Retraction Syndrome; Facial Paralysis; Fibrosis; Genes, Homeobox; Genetic Predisposition to Disease; Humans; Mobius Syndrome; Mutation; Oculomotor Muscles
PubMed: 25633065
DOI: 10.1136/archdischild-2014-307035 -
Biochimica Et Biophysica Acta. Reviews... Aug 2019Plexin D1 belongs to a family of transmembrane proteins called plexins. It was characterized as a receptor for semaphorins and is known to be essential for axonal... (Review)
Review
Plexin D1 belongs to a family of transmembrane proteins called plexins. It was characterized as a receptor for semaphorins and is known to be essential for axonal guidance and vascular patterning. Mutations in Plexin D1 have been implicated in pathologic conditions such as truncus arteriosus and Möbius syndrome. Emerging data show that expression of Plexin D1 is deregulated in several cancers; it can support tumor development by aiding in tumor metastasis and EMT; and conversely, it can act as a dependence receptor and stimulate cell death in the absence of its canonical ligand, semaphorin 3E. The role of Plexin D1 in tumor development and progression is thereby garnering research interest for its potential as a biomarker and as a therapeutic target. In this review, we describe its discovery, structure, mutations, role(s) in cancer, and therapeutic potential.
Topics: Biomarkers, Tumor; Cell Adhesion Molecules, Neuronal; Humans; Intracellular Signaling Peptides and Proteins; Membrane Glycoproteins; Mobius Syndrome; Molecular Targeted Therapy; Neoplasm Metastasis; Neoplasms; Signal Transduction; Truncus Arteriosus
PubMed: 31152824
DOI: 10.1016/j.bbcan.2019.05.004 -
The American Orthoptic Journal Jan 2017Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as congenital... (Review)
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.
Topics: Cranial Nerves; Genetic Predisposition to Disease; Humans; Ocular Motility Disorders; Oculomotor Muscles
PubMed: 28904220
DOI: 10.3368/aoj.67.1.89 -
Atlas of the Oral and Maxillofacial... Sep 2014
Review
Topics: Branchial Region; Child; Diagnosis, Differential; Ear; Female; Genetic Diseases, X-Linked; Hearing Loss; Humans; Mandibulofacial Dysostosis; Microcephaly; Neck
PubMed: 25171997
DOI: 10.1016/j.cxom.2014.04.003 -
Der Nervenarzt Dec 2014Moebius syndrome is a rare neurological disease that has a frequent association with parasomnia. (Review)
Review
BACKGROUND
Moebius syndrome is a rare neurological disease that has a frequent association with parasomnia.
CASE REPORT
We report on a patient with Moebius syndrome and the clinical presentation of a narcolepsy cataplexy syndrome. With the hypoplasia of the brainstem in the cranial magnetic resonance imaging, we were able to show the morphological correlate of Moebius syndrome. Comorbidity was detected by cognitive tests, polysomnography and detection of hypocretin in the cerebrospinal fluid. Despite normal sleep onset latency and only one episode of sleep onset rapid eye movement (REM) in the multiple sleep latency test, where expressiveness is significantly reduced in cases of paralysis of horizontal eye movement, the diagnosis of parasomnia with narcolepsy cataplexy symptoms could be made.
DISCUSSION
The hypocretin level of 132 pg/ml measured in the cerebro spinal fluid is compatible with this diagnosis and shows the relevance of a detailed diagnostic of parasomnia in patients with Moebius syndrome.
Topics: Adolescent; Biomarkers; Diagnosis, Differential; Female; Humans; Intracellular Signaling Peptides and Proteins; Magnetic Resonance Imaging; Mobius Syndrome; Narcolepsy; Neuropeptides; Orexins; Polysomnography
PubMed: 25388761
DOI: 10.1007/s00115-014-4174-8