BACKGROUND: Ocular motor apraxia (OMA) in childhood is a poorly understood condition involving a failure of horizontal saccades. OMA is thought to be rare but the literature indicates wide clinical associations. OMA is often identified by abnormal head movements, but failure of reflexive quick phases has been reported in all but a few patients. The extent of this oculomotor disorder was examined in a large group of children with diverse clinical backgrounds. METHODS: The degree of quick phase failure during horizontal vestibular and optokinetic nystagmus was measured using DC electro-oculography and video in 74 affected children, aged 17 days to 14 years. RESULTS: All children showed an intermittent failure of nystagmic quick phases, except for total failure in one case. Other visuomotor abnormalities were common including saccadic hypometria (85%), low gain smooth pursuit (70%), neurological nystagmus (28%), strabismus (22%), and vertical abnormalities (11%). Non-ocular abnormalities were common including infantile hypotonia (61%), motor delay (77%), and speech delay (87%). There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos. Perinatal and postnatal problems were found in 15% including perinatal hypoxia, meningitis, periventricular leucomalacia, athetoid cerebral palsy, perinatal septicaemia and anaemia, herpes encephalitis, and epilepsy. Only 27% were idiopathic. CONCLUSION: Quick phase failure is a constant feature of OMA, whereas abnormal head movements were detected in only about half, depending on the underlying diagnosis. This oculomotor sign is better described as an intermittent saccade failure rather than as a true apraxia. It indicates central nervous system involvement, has wide clinical associations, but it is not a diagnosis.
展开▼
机译：背景：儿童眼运动失用症（OMA）是一种鲜为人知的疾病，涉及水平扫视失败。 OMA被认为是罕见的，但文献表明存在广泛的临床关联。 OMA常通过异常的头部运动来识别，但除了少数患者外，其他所有患者均出现反射性快速相的失败。在一大批具有不同临床背景的儿童中检查了这种动眼障碍的程度。方法：对74名年龄在17天至14岁的患儿进行直流电眼图和视频测量，以测量水平前庭和视动眼球震颤的快速相衰竭程度。结果：除1例完全衰竭外，所有儿童均表现出间歇性眼震快相衰竭。其他可见运动异常也很常见，包括眼睑下垂（85％），低增益顺滑（70％），神经性眼球震颤（28％），斜视（22％）和垂直异常（11％）。非眼部异常常见，包括婴儿肌张力低下（61％），运动迟缓（77％）和言语延迟（87％）。存在广泛的临床关联，包括call体发育不全，Joubert综合征，Dandy-Walker畸形，小头畸形，脑积水，ver发育不全，毛细头囊肿，巨头畸形，Krabbe血白质营养不良，Pelizaeus Merzbacher病，婴儿Gaucher病，GM1病Refsum病，丙酸血症，共济失调毛细血管扩张症，Bardet-Biedl综合征，ver星形细胞瘤，ver囊肿，颈动脉纤维肌发育不全，Cornelia de Lange综合征和微眼病。 15％的患儿围产期和产后出现问题，包括围产期缺氧，脑膜炎，脑室白细胞软化，动脉粥样硬化性脑瘫，围产期败血症和贫血，疱疹性脑炎和癫痫病。只有27％是特发性的。结论：快速相差是OMA的一个恒定特征，而根据基础诊断，仅在大约一半的时间内发现异常头部运动。这种眼动信号最好描述为间歇性扫视衰竭，而不是真正的失用症。它表明中枢神经系统受累，具有广泛的临床关联，但不是诊断。
展开▼
