摘要目的 探讨Joubert综合征的临床特点及MRI表现,提高对本病的认识及诊断正确率. 方法 回顾性分析南方医科大学珠江医院自2001年至2012年确诊的3例Joubert综合征患儿资料,结合相关文献对该病的临床及影像学特征、鉴别诊断要点进行总结. 结果 3例患儿均显示出典型的MRI表现,即由于小脑蚓部发育不育导致的复杂的脑干畸形,包括中脑水平“磨牙征”、小脑半球间“中线裂”及第四脑室变形呈“蝙蝠翼状”改变.临床上,3例患儿均出现新生儿期肌张力减退、阵发性呼吸频率改变(1例伴呼吸暂停)及运动、智力发育迟缓,仅1例眼球活动异常(斜视). 结论 Joubert综合征MRI表现具有特征性,但确诊必须结合临床表现,应注意与其他小脑蚓部发育异常病变相鉴别.

abstractsObjective To study the clinical and MR imaging features of patients with Joubert syndrome to improve the understanding of this disorder and the diagnosis accuracy.Methods A retrospective study of clinical and MR imaging data was performed in 3 pediatric patients had definite diagnosis of Joubert syndrome; and a comprehensive review of literature was presented.Results All 3 patients showed typical manifestations of complex brainstem malformations on MR imaging which comprised the "molar tooth sign" on midbrain level,"thin median cleft" separating cerebellar hemispheres and "bat wing" appearance of the fourth ventricle due to the cerebellar vermis hypoplasia.Clinically,hypotonia,intermittent irregular breathing pattern (with apnea in 1 patient) and developmental delay/mental retardation in infancy in all 3 patients and abnormal eye movements (episodic deviation to lateral extremes of gaze) in 1 patient were noted.Conclusion Joubert syndrome is characterized on MR imaging,but clinical data is necessary for an exact diagnosis; differentiation should be made with the other disorders due to the hypoplasia of cerebellar vermis.