Imaging studies of Joubert syndrome and related diseases / 中华医学超声杂志（电子版）

ABSTRACT

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&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 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.