Joubert综合征及相关疾病的产前及产后影像学研究

Imaging studies of Joubert syndrome and related diseases

目的：探讨胎儿及家系患儿Joubert综合征及相关疾病（JSRD）超声、磁共振成像（MRI）影像特征。方法对2013年4至8月在南方医科大学附属深圳市妇幼保健院产前筛查的脑积水胎儿行超声、MRI及基因检查，对引产胎儿标本行尸体解剖检查；对家系6岁JSRD患儿进行体格检查、脑电图及MRI检查。结合临床、影像学检查及尸检结果进行综合分析。结果 JSRD胎儿及家系患儿检查结果：（1）超声声像图示胎儿小脑蚓部发育不良形成的“裂隙征”、脑积水、左侧脑室宽约2.3 cm。（2）颅脑MRI示胎儿及家系患儿均显示中脑水平“臼齿征”及小脑蚓部发育不良形成的“裂隙征”。（3）基因检测：胎儿脐带血及患儿外周血基因检测均表现为染色体4p15.32上的CC2D2A基因突变。（4）引产胎儿尸体解剖示小脑蚓部发育不良，两侧小脑半球向中线靠拢。（5）临床检查：家系患儿视听反应欠佳、抬头不稳、头眼协调欠佳、上眼睑抬举乏力，哭时口角左歪、智力运动发育落后，走路不稳。（6）脑电图检查：家系患儿枕部大脑皮质异常放电以3-4 Hz为主；睡眠背景欠佳，额区尖波频发，右侧为著。结论产前颅脑MRI显示“臼齿征”可提示JSRD；超声显示小脑蚓部发育不良出现“裂隙征”可为诊断JSRD提供一定线索，但“裂隙征”在中孕早期特异性不强。产后依据临床及影像学“臼齿征”、“裂隙征”、“蝙蝠翼征”等特征性超声表现较易诊断JSRD。

Objective To explore the value of prenatal diagnosis and sonographic features of Joubert syndrome and related disease （JSRD）. Methods From April 2013 to August 2013, a fetal suspected hydrocephaly and the child of the same family were studied in Southern Medical University Afifliated Shenzhen Maternity＆amp;Child Healthcare Hospital. The fetal underwent ultrasonographic imaging, magnetic resonance imaging, genetic test and autopsy. The propositus underwent magnetic resonance imaging, genetic test and clinical test. The magnetic resonance imaging and ultrasonographic imaging features of the JSRD were analysed. Results （1） Ultrasound results：′cleft sign′was detected because of the fetus cerebellar vermis dysplasia. The width of left ventricle was 2.3 cm. （2） MRI results：Both the fetal and the propositus showed′molar tooth sign′and′cleft sign′. （3） Genetic test results：Both of them had the mutations of CC2D2A gene at chromosome 4p15.32. （4） Fetal autopsy results：fetal cerebellar vermis hypoplasia and cerebellar hemispheres moved closer to the midline. （5） Clinical test result：the propositus had poor audio-visual reaction, looked instability, poor head-eye coordination, upper eyelid lifting fatigue, mental retardation and ataxia. His mouth crooked when he was crying. （6） The electroencephalogram results：the EEG with abnormal 3-4 Hz coming from occipital cortex showed poor sleep background. Frontal area launched sharp wave frequently. It was more obvious on the right area. Conclusions It is easy to diagnose JSRD＆amp;nbsp;according to the′molar tooth sign′,′cleft sign′,′bat wing sign′and the clinical features. The′molar tooth sign′on prenatal MRI may prompt JSRD risk, but it is not speciifc. Prenatal ultrasonographic features of cerebellar vermis hypogenesis provide some clues for the diagnosis.