新生儿Joubert综合征临床特征(附3例报告)

Clinical features of Joubert syndrome in neonates (Report of 3 cases)

目的探讨新生儿Joubert综合征的临床特征。方法回顾性分析3例Joubert综合征患儿的临床资料,并对相关文献资料进行复习。结果 Joubert综合征临床表现多样,可多器官受累。本病多表现为新生儿异常呼吸、肌张力减退、发育迟缓,并可侵及眼、肾、肝、肠道等组织。本组2例患儿失访,1例患儿肺炎经治疗好转出院,仍伴有阵发性气促、肌张力低下表现。结论 Joubert综合征具有发育迟缓、肌张力减退、异常呼吸及眼球异常运动等典型临床表现。影像学特征包括第四脑室具有"磨牙征"、"中线裂征"及"蝙蝠翼征"等。

Objective To explore the clinical features of Joubert syndrome(JS) in neonates. Methods The clinical data of 3 JS patients were analyzed retrospectively, and the recent literatures were also reviewed. Results The clinical manifestations of JS were diverse, it might involve multiple organs. Mostly, it was manifested by abnormal breathing, hypotonia and retardation of development in neonates, and could invade the eyes, kidneys, liver and intestine. In this group, two patients were withdrawn and lost for follow-up, one patient discharged when the pneumonia was improved, but still accompanied with gasp and low muscle tone. Conclusions The typical clinical manifestations of JS are gasp, hypotonia, slow growth and unusual eyeball movement. The typical imaging features of brain are molar tooth sign, midline cleavage sign and bat-wing sign in fourth vencricle.