Background Although neuroradiological findings of M（o）bius syndrome have been reported as a result of brain and brainstem abnormalities,magnetic resonance imaging （MRI） now permits the direct imaging of the crania...Background Although neuroradiological findings of M（o）bius syndrome have been reported as a result of brain and brainstem abnormalities,magnetic resonance imaging （MRI） now permits the direct imaging of the cranial nerve （CN） and branches in the orbits.This study presents the MRI findings in patients with sporadic M（o）bius syndrome.Methods Prospectively,CNs were imaged in the cistern using head coils and three dimensional fast imaging employing steady-state acquisition （3D-FIESTA）,yielding a 0.5 mm2 resolution in planes of 0.8 mm thickness in seven patients with sporadic M（o）bius syndrome.The cavernous and intraorbital segment of the CN and the extraocular muscles （EOMs） were imaged with T1 weighting in all patients.The cavernous segment was imaged in coronal planes,while the intraorbit in quasicoronal planes were imaged using surface coils.Intraorbital resolution was 0.16 mm2 within 2.0 mm thick planes.Results In the seven patients,the CN were absent or showed hypoplasia in the cistern,cavernous sinus,and orbit.Abducens （CN Ⅵ） and facial （CN Ⅶ） nerves were absent on the affected sides.Unilateral CN IX （glossopharyngeal nerve） in two cases displayed dysplasia.Branches from the inferior division of CN Ⅲ were observed to innervate the lateral rectus （LR） bilaterally in three cases and unilaterally in one case,and had intimate continuity with the LR muscle in two cases bilaterally and two cases unilaterally.Hypoplasia of EOMs was shown in five cases.Dysplasia of the medulla on the left side was found in one patient.Conclusions Direct imaging of CNs and EOMs by MRI is useful in diagnosis of M（o）bius syndrome.It can directly demonstrate the abnormalities of the CN and orbital structures.The absence or hypoplasia of CN Ⅵ and CN Ⅶ may be the most common radiologic features in sporadic M（o）bius syndrome,and hypoplasia of CN IX may be an associated feature.The abnormality of EOMs and aberrant innervations in the orbit should be observed,and may be important for the study of the etiology.展开更多
Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malform...Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves Ⅴ through Ⅻ underlines the disease pathogenesis. Although a genetic etiology for Moebius syndrome was proposed, molecular genetic studies to identify the causative gene（s） are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPψg-BASP1, which is located on chromosome 13q flanking the putative locus for Moebius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Moebius syndrome.展开更多
基金This work was supported by a fund from Clinical-Basic Cooperation of Capital Medical University （No. 11JL37） and a grant from the National Natural Science Foundation of China （No. 81070762）.
文摘Background Although neuroradiological findings of M（o）bius syndrome have been reported as a result of brain and brainstem abnormalities,magnetic resonance imaging （MRI） now permits the direct imaging of the cranial nerve （CN） and branches in the orbits.This study presents the MRI findings in patients with sporadic M（o）bius syndrome.Methods Prospectively,CNs were imaged in the cistern using head coils and three dimensional fast imaging employing steady-state acquisition （3D-FIESTA）,yielding a 0.5 mm2 resolution in planes of 0.8 mm thickness in seven patients with sporadic M（o）bius syndrome.The cavernous and intraorbital segment of the CN and the extraocular muscles （EOMs） were imaged with T1 weighting in all patients.The cavernous segment was imaged in coronal planes,while the intraorbit in quasicoronal planes were imaged using surface coils.Intraorbital resolution was 0.16 mm2 within 2.0 mm thick planes.Results In the seven patients,the CN were absent or showed hypoplasia in the cistern,cavernous sinus,and orbit.Abducens （CN Ⅵ） and facial （CN Ⅶ） nerves were absent on the affected sides.Unilateral CN IX （glossopharyngeal nerve） in two cases displayed dysplasia.Branches from the inferior division of CN Ⅲ were observed to innervate the lateral rectus （LR） bilaterally in three cases and unilaterally in one case,and had intimate continuity with the LR muscle in two cases bilaterally and two cases unilaterally.Hypoplasia of EOMs was shown in five cases.Dysplasia of the medulla on the left side was found in one patient.Conclusions Direct imaging of CNs and EOMs by MRI is useful in diagnosis of M（o）bius syndrome.It can directly demonstrate the abnormalities of the CN and orbital structures.The absence or hypoplasia of CN Ⅵ and CN Ⅶ may be the most common radiologic features in sporadic M（o）bius syndrome,and hypoplasia of CN IX may be an associated feature.The abnormality of EOMs and aberrant innervations in the orbit should be observed,and may be important for the study of the etiology.
基金supported by the Research Fund of the Istanbul University, Turkey (No. 480 [2359/2006])
文摘Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves Ⅴ through Ⅻ underlines the disease pathogenesis. Although a genetic etiology for Moebius syndrome was proposed, molecular genetic studies to identify the causative gene（s） are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPψg-BASP1, which is located on chromosome 13q flanking the putative locus for Moebius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Moebius syndrome.
