''Joubert syndrome'' revisited: Key ocular motor signs with magnetic resonance imaging correlation
''Joubert syndrome'' revisited: Key ocular motor signs with magnetic resonance imaging correlation
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DOI：
10.1177/088307389701200703
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发表时间：
1997-10-01
影响因子：
1.9
通讯作者：
Frerking, B
中科院分区：
文献类型：
--
作者：
Maria, BL;Hoang, KBN;Frerking, B
Joubert综合征的特征是发作性呼吸暂停、发育迟缓、低眼压、躯干共济失调、眼科异常和蠕虫发育不全。我们研究了15例被诊断为Joubert综合征的患者，以(1)更全面地确定该综合征的临床特征，并(2)将其临床特征与磁共振成像(MRI)结果相关联。15例患者中有8例有间歇性呼吸暂停和过度呼吸的病史。所有患者均有发育迟缓和低眼压。在接受详细神经眼科评估的13名患者中，有3名患者有视神经发育不良、垂直性眼球震颤和凝视性眼球震颤。13例患者均有基于头部推力的前庭-眼反射正常，但缺乏或不能消除水平和垂直方向的前庭-眼反射。13例患者中有12例存在顺畅追踪障碍。13例患者中有12例在眼跳起始和快相方面存在缺陷。最一致的两个放射学特征是小脑后部蠕虫缺失或发育不良，以及中脑和桥脑交界处变形，基于眼运动生理学，它们分别与前庭-眼反射取消/追赶缺陷和扫视起始缺陷相关。由于中脑、蠕虫和小脑上脚的异常，轴位神经成像显示这些结构具有独特的“磨牙”外观。这些结果表明，Joubert综合征是由中脑和小脑蠕虫发育不良引起的，在MRI上产生了一种病理性征象。
Joubert syndrome is characterized by episodic hyperpnea and apnea, developmental delay, hypotonia, truncal ataxia, ophthalmologic abnormalities, and vermian dysgenesis. We studied 15 patients with the diagnosis of Joubert syndrome to (1) more fully define the syndrome's clinical features, and (2) correlate the clinical features with magnetic resonance imaging (MRI) findings. Eight of 15 patients had a history of episodic hyperpnea and apnea. All patients had developmental delay and hypotonia. Of the 13 patients receiving detailed neuro-ophthalmologic evaluations, three had optic nerve dysplasia, pendular nystagmus, and gaze-holding nystagmus. All 13 patients had a normal vestibule-ocular reflex based on head thrust, but had absent to poor ability to cancel the vestibule-ocular reflex horizontally and vertically. Twelve of 13 patients had impaired smooth pursuit. Twelve of 13 patients had defects in initiation of saccades and quick phases. Two of the most consistent radiologic features were absent or hypoplastic posterior cerebellar vermis, and deformed midbrain and pontomesencephalic junction, which based on ocular motor physiology correlate with the vestibule-ocular reflex cancellation/pursuit defect and saccade initiation defect, respectively. As a result of midbrain, vermian, and superior cerebellar peduncle abnormalities, axial neuroimaging showed a unique ''molar tooth'' appearance of these structures. These results indicate that Joubert syndrome results from maldevelopment of the midbrain and cerebellar vermis, producing a pathognomonic sign on MRI.