Poretti Andrea, Christen Hans-Jürgen, Elton Lindsay E, Baumgartner Manuela, Korenke Georg Christoph, Sukhudyan Biayna, Hethey Sven, Cross Elizabeth, Steinlin Maja, Boltshauser Eugen
Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Dev Med Child Neurol. 2014 Oct;56(10):1016-20. doi: 10.1111/dmcn.12489. Epub 2014 May 10.
Head thrusts are well documented in Joubert syndrome and ocular motor apraxia. We provide a detailed clinical characterization of head titubation in 13 young children with Joubert syndrome.
Detailed characterization of head titubation was assessed by targeted clinical evaluation and/or analysis of videos.
In 12 of 13 children (eight males, five females; median age 6y, range 2mo-15y) head titubation was first recognized in the first 2 months of age and decreased in severity until spontaneous resolution. In all children, the head titubation was horizontal, high frequency (~3Hz), had small amplitude (5-10°), was never present during sleep, and did not interfere with the neurodevelopment during infancy. In the majority of children, emotion, anxiety, and tiredness were worsening factors for head titubation.
Head titubation is a benign, early presentation of Joubert syndrome. Head titubation in hypotonic infants should prompt a careful search for Joubert syndrome. Awareness of its occurrence in Joubert syndrome may avoid unnecessary investigations.
头部震颤在Joubert综合征和眼球运动失用症中已有充分记载。我们对13例Joubert综合征幼儿的头部震颤进行了详细的临床特征描述。
通过针对性临床评估和/或视频分析对头部震颤进行详细特征描述。
13例儿童中有12例（8名男性，5名女性；中位年龄6岁，范围2个月至15岁）在出生后前2个月首次发现头部震颤，其严重程度逐渐减轻直至自行缓解。所有儿童的头部震颤均为水平方向、高频（约3Hz）、小幅度（5-10°），睡眠期间从未出现，且在婴儿期不影响神经发育。大多数儿童中，情绪、焦虑和疲劳是头部震颤的加重因素。
头部震颤是Joubert综合征的一种良性早期表现。低张力婴儿出现头部震颤应促使仔细排查Joubert综合征。认识到其在Joubert综合征中的发生情况可避免不必要的检查。
