Joubert综合征一例及文献复习

Report of a case with Joubert syndrome and literature review

目的 探讨Joubert综合征（JS）的临床表现、影像学特征及其诊断价值.方法 报告Joubert综合征1例的临床资料及影像表现,并复习通过中国生物医学文献数据库（CBMdise）检索国内报道的31例的相关文献.结果 连同本例一同分析的32例Joubert综合征患儿男20例,女12例,发病年龄3d～6岁（平均2.2岁）；全部患儿临床表现均有发育迟缓及肌张力减退的表现,异常呼吸26例（81.3％）,眼球异常运动26例（81.3％）,多指（趾）2例（6.3％）,张口时伸舌6例（1 8.8％）.影像学包括中脑水平的“磨牙征”、小脑半球间的“中线裂”及“蝙蝠翼”状的第4脑室,其中全部患儿均有“中线裂”,“磨牙征”29例（90.1％）,“蝙蝠翼”状的第4脑室30例（93.8％）.结论 Joubert综合征是一种罕见的颅脑先天性发育畸形,具有发育迟缓、肌张力减退、异常呼吸及眼球异常运动等典型临床表现,脑部影像具有“磨牙征”、“中线裂”及“蝙蝠翼”状的第四脑室等特征.

Objective To explore the clinical feature,imaging and their diagnostic value for Joubert syndrome （JS）.Method The clinical data,imaging feature,and 31 references from China Biomedical literature database （CBMdise） were reviewed and analyzed.Result The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years （ mean 2.2 years）.All the 32 patients with Joubert syndrome showed “slow growth” and “reduced muscle tension”,26 cases （81.3%） showed “gasp for breath”,26 cases （81.3%） showed “unusual motion of eyeball”,2 cases （6.3% ） showed additional fingers （ toes ）,6 cases （ 18.8% ） showed stretching tongue with agape.The typical imaging features of Joubert syndrome included “molar tooth sign”,“ midline cleavage” between cereb,ellar hemispheres and“ bat-wing”like fourth ventricle,all the 32 patients with Joubert syndrome showed “midline cleavage”,“ molar tooth sign”was present in 29 cases （90.1% ）,and“bat-wing”like fourth ventricle in 30 cases （93.8%）.Conclusion Joubert syndrome is a rare congenital brain malformation.The typical clinical manifestations included “gasp for breath”,“reduced tension of muscle”,“ slow growth” and “unusual motion of eyeball”,and at the same time the patients had the following typical imaging features of brain：“molar tooth sign”,“midline cleavage” and “ bat-wing” like fourth ventricle.