Magnetic resonance imaging of the endophenotype of a novel familial Mobius-like syndrome
Magnetic resonance imaging of the endophenotype of a novel familial Mobius-like syndrome
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DOI：
10.1016/j.jaapos.2008.01.018
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发表时间：
2008-08-01
期刊：
影响因子：
1.6
通讯作者：
Demer, Joseph L.
中科院分区：
文献类型：
--
作者：
Dumars, Sean;Andrews, Caroline;Demer, Joseph L.
简介莫比乌斯综合征典型的表现为先天性面瘫和外展功能障碍的散发性特征。我们利用高分辨率磁共振成像(MRI)和基因分析对一个具有Mobius综合征特征的家系进行了检查。方法对3名先天完全性眼肌麻痹伴上睑下垂样面神经麻痹的家系成员进行检查。眼眶在2 mm厚的准冠状和矢状面上成像。蛛网膜下腔颅神经在1 mm厚的平面上成像。结果受试者眼外肌和眶内运动神经明显发育不良，眼外肌和眶内运动神经发育不良。在前眼眶，眼外直肌发育较少，但明显向附着点弯曲。斜视眼外肌发育不良，并有异常插入。后部骨性眼眶发育不良。视神经明显伸直。大脑和脑神经III、VI、VII和双侧正常。未发现致病突变。结论先前的MRI研究显示Modius综合征患者存在脑干发育不良和脑神经再生不全。目前的家庭有正常的脑部和蛛网膜下腔的运动脑神经支配眼眶，但明显的眼外肌发育不良。这些临床和MRI表现在莫比乌斯综合征和其他先天性颅神经功能障碍中不典型。尽管做了核磁共振检查，但仍有可能出现先天性面部无力和完全性眼球麻痹。脑干解剖正常的证据。这种内表型似乎是由一种不同于迄今定义的先天性颅神经功能障碍的遗传缺陷造成的，而不是一种全球性的脑干损伤。
INTRODUCTION Mobius syndrome typically presents as a sporadic trait with congenital facial palsy and abduction impairment. We used high-resolution magnetic resonance imaging (MRI) and genetic analysis to examine a family with features of Mobius syndrome.METHODS We examined 3 related family members having congenital complete opthalmoplegia with ptosis kind facial diplegia. Orbits were imaged in quasi-coronal and sagittal planes of 2 mm thickness. Subarachnoid cranial nerves were imaged in planes of 1 mm thickness. Linkage and mutation analysis were performed to determine whether the pedigree harbored mutations in 4 candidate genes.RESULTS In affected subjects, MRI showed marked hypoplasia of extraocular muscles and intraorbital motor nerves. In the anterior orbit, rectus extraocular muscles were less hypoplastic but markedly curved toward insertion. Oblique extraocular muscles were hypoplastic and abnormally inserted. Posterior bony orbits were hypoplastic. Optic nerves were markedly straightened. Brainstems and cranial nerves III, VI, VII, and VIII were normal bilaterally. No pathogenic mutations were detected in affected individuals.CONCLUSIONS Previous MRI studies have demonstrated brainstem hypoplasia and cranial nerve aplasia in Modius syndrome. The Current family had normal brainstems and subarachnoid portions of motor cranial nerves innervating the orbit but marked extraocular muscle hypoplasia. These clinical and MRI findings are atypical for Mobius syndrome and other congenital cranial dysinnervation disorders. Congenital facial weakness and complete ophthahnoplegia may occur despite MRI. evidence of normal brainstem anatomy. The endophenotype appears to result from a genetic defect distinct from the congenital cranial dysinnervation disorders defined thus far, rather than a global brainstem insult.