Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Mobius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.
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http://dx.doi.org/10.1053/ejpn.2001.0540 | DOI Listing |
Lupus Sci Med
January 2025
Physical Medicine, Rheumatology & Rehabilitation, School of Medicine, Tanta University, Tanta, Egypt.
Objective: Evaluating the potential role of neuromuscular ultrasonography (NMUS) in assessing optic nerve affection in patients with systemic lupus erythematosus (SLE), compared with healthy controls and other conventional strategies in diagnosing optic neuropathy.
Methods: We conducted an observational cross-sectional study comparing patients with SLE and a healthy group. We measured the optic nerve diameter (OND) and optic nerve sheath diameter (ONSD) and calculated the OND/ONSD ratio and side-to-side difference.
J Neurophysiol
February 2025
Department of Rehabilitation Medicine, Tianjin Medical University General Hospital, Tianjin, China.
Vagus nerve stimulation (VNS) has been commonly employed for the functional rehabilitation of stroke patients. This study aimed to investigate the therapeutic effects of transcranial direct current stimulation on the vagus nerve (TDCSVN) in improving dysphagia in stroke patients. Patients experiencing dysphagia following a stroke were diagnosed with dysphagia by a water swallow test.
View Article and Find Full Text PDFOtolaryngol Head Neck Surg
January 2025
Division of Otology, Neurotology, and Cranial Base Surgery, Department of Otolaryngology-Head and Neck Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Objective: To evaluate the predictive value of plasma matrix metalloproteinase-9 (MMP-9) level in determining the extent of tumor resection (EOR) and tumor adherence in vestibular schwannoma (VS) surgery.
Study Design: Prospective cohort study.
Setting: Academic referral center.
Sci Rep
January 2025
Department of Ophthalmology, Federal University of São Paulo, São Paulo, SP, Brazil.
Chagas disease (CD), a parasitic infection, may have ocular repercussions in its cardiologic form, since a history of heart disease of other etiologies already has been established as a risk factor for neuropathies and maculopathies. The aim of the present study was to investigate preclinical structural and vascular optic nerve head (ONH) and macular parameters in patients with chronic CD. Nineteen patients with CD and 19 healthy subjects were evaluated with optical coherence tomography, optical coherence tomography angiography, and Laguna ONhE® software.
View Article and Find Full Text PDFA A Pract
January 2025
Département d'Anesthésie, Hôpital Antoine Béclère, APHP.Université Paris-Saclay, Clamart, France.
We describe a patient with severe Arnold Chiari Malformation and syringomyelia who underwent gynecological laparoscopy in an emergency context; no brain imaging was available. We here report the successful use of optic nerve sheath diameter (ONSD) and middle cerebral artery (MCA) velocity measurements as surrogate monitoring for cerebral blood flow and intracranial pressure, respectively. MCA velocity was low when assessed after peritoneal insufflation and ONSD increased to 6.
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