Rehman Imaad ur, Bett Zablon, Husen Yousuf, Akhtar Ali Syed Muhammad, Khan Faisal Aziz
Radiology and Paediatrics Department, The Aga Khan University Hospital, Karachi, Pakistan.
J Pak Med Assoc. 2009 Dec;59(12):851-3.
The molar tooth sign is seen in very few conditions and is a very rare paediatric central nervous system congenital anomaly. Molar tooth sign is the result of cerebellar vermis hypoplasia, thick and maloriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. In Joubert syndrome this is seen in about 85% of patients. We present a case of 13 months old baby boy with recurrent episodes of fits and hyperpnoea, regression of milestones and developmental delay. MRI examination showed the characteristic molar tooth sign with apposition of cerebellar hemispheres, batwing-shaped fourth ventricle communicating through a thin fissure with foramen of Magendie, cerebellar vermis agenesis and deep interpeduncular fossa consistent with diagnosis of Joubert syndrome.
磨牙征仅在极少数情况下出现，是一种非常罕见的小儿中枢神经系统先天性异常。磨牙征是小脑蚓部发育不全、上小脑脚增厚且方向异常以及脚间窝异常加深的结果。在约85%的儒贝尔综合征患者中可见此征。我们报告一例13个月大男婴，有反复发作的惊厥和呼吸急促、发育里程碑倒退及发育迟缓。MRI检查显示了特征性的磨牙征，小脑半球并列，蝙蝠翼样第四脑室通过一条细裂与马让迪孔相通，小脑蚓部缺如，脚间窝加深，符合儒贝尔综合征的诊断。
