Zaidi Syed Muhammad Hussain, Syed Izna Najam, Tahir Umair, Noor Tayyaba, Choudhry Muhammad Saad
Internal Medicine, Dow University of Health Sciences, Civil Hospital Karachi, Karachi, PAK.
Internal Medicine, Rawalpindi Medical University, Karachi, PAK.
Cureus. 2023 Feb 19;15(2):e35187. doi: 10.7759/cureus.35187. eCollection 2023 Feb.
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.
梅比厄斯综合征(MBS)是一种罕见的先天性颅神经疾病,其特征为单侧、双侧对称或不对称的面部(VII)和外展(VI)神经麻痹。遗传学因素以及子宫内环境暴露导致的菱脑血管紊乱被认为与该病的发生有关。它可能伴有各种口面部异常。尽管诊断完全基于临床,但脑部影像中存在某些特征性表现。由于无法治愈,制定个性化的治疗方案至关重要。我们在现有文献中讨论了病因、临床表现、诊断方法和有效治疗措施。这篇全面的综述探讨了梅比厄斯综合征的临床病理方面。作者利用PUBMED基础索引来识别相关文献,并根据研究关键词进行引用。研究结果表明,最常见的病因是胚胎发育过程中子宫内血管对脑干的破坏理论,其次是遗传假说。子宫内环境暴露被认为是潜在的风险因素。面部和外展神经麻痹是最常见的临床表现。然而,较低颅神经(IX、X、XI、XII)的临床表现可能伴有骨科异常和智力缺陷。诊断主要依靠临床,诊断标准定义极少。在影像学研究中可以观察到涉及脑干和小脑的特征性放射学表现。由于没有明确的治疗选择,采用多学科方法提供支持性护理。尽管有放射学表现,但梅比厄斯综合征仍通过临床诊断。尽管无法治愈,但采用多学科方法并结合个性化康复措施,可以管理身体和心理缺陷;然而,需要建立标准指南。