Moebius Syndrome: What We Know So Far.
| Autor: | Zaidi SMH; Internal Medicine, Dow University of Health Sciences, Civil Hospital Karachi, Karachi, PAK., Syed IN; Internal Medicine, Dow University of Health Sciences, Civil Hospital Karachi, Karachi, PAK., Tahir U; Internal Medicine, Rawalpindi Medical University, Karachi, PAK., Noor T; Internal Medicine, Rawalpindi Medical University, Karachi, PAK., Choudhry MS; General Surgery, Dow University of Health Sciences, Civil Hospital Karachi, Karachi, PAK. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Feb 19; Vol. 15 (2), pp. e35187. Date of Electronic Publication: 2023 Feb 19 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.35187 |
| Abstrakt: | Moebius syndrome (MBS) is a rare congenital cranial nerve disorder characterized by unilateral, bilateral symmetrical, or asymmetrical facial (VII) and abducens (VI) nerve palsies. Genetics and rhombencephalon vascular disturbances from intrauterine environmental exposures have been attributed to its development. It can present with various orofacial abnormalities. Although the diagnosis is purely clinical, certain characteristic features are present in the brain's images. With no cure, it is essential to devise management on a personalized basis. We discuss etiology, presentation, diagnostic approaches, and effective management in the existing literature. This comprehensive review examines the clinic-pathological aspects of Moebius syndrome. The authors employed the PUBMED base index to identify pertinent literature and reference it according to research keywords. Findings suggest the most popular etiology is the theory of intrauterine vascular disruption to the brainstem during embryogenesis, followed by the genetic hypothesis. Intrauterine environmental exposures have been implicated as potential risk factors. Facial and abducens nerve palsies are the most common presenting features. However, clinical manifestations of lower cranial nerves (IX, X, XI, XII) may be present with orthopedic anomalies and intellectual deficiencies. The diagnosis is clinical with minimal defined diagnostic criteria. Characteristic radiological manifestations involving the brainstem and cerebellum can be observed in imaging studies. With no definitive treatment options, a multidisciplinary approach is employed to provide supportive care. Despite radiological manifestations, Moebius syndrome is diagnosed clinically. Although incurable, a multidisciplinary approach, with personalized rehabilitative measures, can manage physical and psychological deficits; however, standard guidelines need to be established. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Zaidi et al.) |
| Databáze: | MEDLINE |
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