Nag C, Ghosh M, Das K, Ghosh Tn
Department of General Medicine, Burdwan Medical College, Burdwan, West Bengal, India.
Ann Med Health Sci Res. 2013 Apr;3(2):291-4. doi: 10.4103/2141-9248.113686.
Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney disease. The importance of recognizing JS is related to the outcome and its potential complications. Prenatal diagnosis by ultarsonography and antenatal magnetic resonance imaging (MRI) is also possible. We have diagnosed a case of JS in a male infant with history of delayed mental and motor milestone development, history of abnormal breathing pattern, abnormal limb movement, generalized hypotonia and abnormal head movements with nystagmus. MRI showed hypoplastic cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the "Molar Tooth Sign" in the mid-brain.
乔伯特综合征（JS）是一种非常罕见的常染色体隐性疾病。其特征为小脑蚓部发育不全、伴有眼球震颤的异常眼球运动、呼吸急促和呼吸暂停发作、全身运动发育迟缓、视网膜缺损和营养不良，有时还伴有多囊肾病。认识JS的重要性与预后及其潜在并发症有关。通过超声检查和产前磁共振成像（MRI）进行产前诊断也是可行的。我们诊断了一例患有JS的男婴，该男婴有精神和运动发育里程碑延迟、呼吸模式异常、肢体运动异常、全身肌张力减退以及伴有眼球震颤的异常头部运动史。MRI显示小脑蚓部发育不全，上小脑脚发育不全，在中脑类似“磨牙征”。
