论文部分内容阅读
患儿男,1岁,智力发育落后,左眼斜视,呼吸浅快,不能抬头,经我院检查诊断为Joubert综合征(JS),临床随访证实。颅脑磁共振成像(MRI)平扫显示小脑蚓部缺如,两侧小脑半球间裂扩大,T2WI可见线样脑脊液信号向前与第四脑室相通,呈“中线裂”征象,四脑室扩大并形态不规则,于中脑桥脑交界面呈“蝙蝠翼”样改变,增厚狭长的小脑上角与缩小的脑干峡部形成“磨牙征”。结合临床及典型特征性
Children, 1 year old, mental retardation, left eye strabismus, shallow breathing, can not look up, the hospital diagnosed as Joubert syndrome (JS), clinical follow-up confirmed. Cerebral magnetic resonance imaging (MRI) showed plain cerebellar vermis lacking, both sides of the cerebellar hemispheric fissure, T2WI visible linear cerebrospinal fluid signal with the fourth ventricle forward, showing “midline cleft ” signs, the fourth ventricle Enlarged and irregular shape, at the brain junction of the brain patella was “batwing” -like changes, thickening of the narrow upper horn and narrowing of the isthmus of the brainstem formation “molars sign.” Combined with clinical and typical characteristics