Fons-Estupiñá M C, Póo P, Colomer J, Campistol J
Servicio de Neurlogía ,Hospital Universitari Sant Joan de Déu, 08950 Esplugues de Llobregat, Barcelona, España.
Rev Neurol. 2007;44(10):583-8.
Moebius syndrome is an infrequent congenital, non-progressive disorder that is defined by facial palsy (usually bilateral) and oculomotor compromise. Its clinical spectrum is variable but it affects other cranial nerves and is associated with multiple malformations.
We report the clinical, neurological and neuroimaging features and the progress of 20 patients (16 males and 4 females) who satisfied diagnostic criteria for Moebius sequence.
Ages at the first visit ranged from 9 days to 23 months. Births had been normal in 50% of the patients. Facial nerve compromise was observed in all cases, 70% being bilateral. Cranial nerves VI (85%), XII (40%), VIII (25%) and IX (60%) were also involved. Perinatal respiratory distress was seen in 35% of the patients, apnoeas in 25% and retarded development in 60% of cases. They also presented other associated malformations such as microretrognathia, ogival palate, club foot, hand and foot malformations, and four cases presented unilateral agenesis of the pectoralis major. An electromyogram study showed absence of spontaneous and voluntary activity and muscle evoked potentials on stimulating the facial nerve; magnetic resonance imaging of the brain showed hypoplasia of the trunk, agenesis of the cranial nerves and abnormalities in the posterior fossa in three of the ten cases in which the scan was performed.
The association of multiple malformations and dysfunction of the cranial nerves suggests a disruption in the process of morphogenesis during the embryonic period, and therefore Moebius syndrome is considered to be a malformative sequence.
梅比厄斯综合征是一种罕见的先天性、非进行性疾病，其特征为面瘫（通常为双侧）和动眼功能障碍。其临床症状多样，但会影响其他颅神经，并伴有多种畸形。
我们报告了20例符合梅比厄斯序列诊断标准的患者（16例男性和4例女性）的临床、神经学和神经影像学特征及病情进展。
首次就诊年龄从9天至23个月不等。50%的患者出生时正常。所有病例均观察到面神经功能障碍，70%为双侧。颅神经VI（85%）、XII（40%）、VIII（25%）和IX（60%）也受累。35%的患者有围产期呼吸窘迫，25%有呼吸暂停，60%有发育迟缓。他们还存在其他相关畸形，如小下颌后缩、高拱腭、马蹄内翻足、手足畸形，4例有单侧胸大肌发育不全。肌电图研究显示，刺激面神经时无自发和自主活动及肌肉诱发电位；10例进行脑部磁共振成像扫描的患者中，3例显示脑干发育不全、颅神经发育不全及后颅窝异常。
多种畸形与颅神经功能障碍的关联提示胚胎期形态发生过程受到破坏，因此梅比厄斯综合征被认为是一种畸形序列。
