Puñal J E, Rodríguez E, Pintos E, Campos Y, Castro-Gago M
Departamento de Pediatría, Hospital General de Galicia, Santiago de Compostela, Spain.
Brain Dev. 1998 Apr;20(3):175-8. doi: 10.1016/s0387-7604(98)00009-6.
Congenital ocular motor apraxia (COMA), first described by Cogan [Trans Am Acad Ophthalmol Otolaryngol 1952;56:853-862], is a rare disorder characterized by impairment of voluntary and optically induced horizontal eye movements and compensatory head thrust. The causes and pathogenesis of COMA are poorly understood. It frequently occurs in association with other neurologic abnormalities including non-progressive congenital disorders of the central nervous system (CNS), various systemic diseases and chromosomal alterations. Here, we report the case of a 6-month-old girl with psychomotor retardation, myopathy and clinical features of COMA, associated with external hydrocephalus and mitochondrial dysfunction (partial deficiency of the respiratory-chain enzyme NADH dehydrogenase). In view of this finding, we recommend that tests to characterize patients with COMA should include determination of blood levels of lactic and pyruvic acid.
先天性眼球运动失用症（COMA）最早由科根于1952年描述（《美国眼耳鼻喉科协会学报》，1952年；56:853 - 862），是一种罕见的疾病，其特征为随意性和视动性水平眼球运动障碍以及代偿性头部前推。COMA的病因和发病机制尚不清楚。它常与其他神经异常相关，包括中枢神经系统（CNS）的非进行性先天性疾病、各种全身性疾病以及染色体改变。在此，我们报告一例6个月大的女童病例，该女童存在精神运动发育迟缓、肌病以及COMA的临床特征，并伴有外部性脑积水和线粒体功能障碍（呼吸链酶NADH脱氢酶部分缺乏）。鉴于这一发现，我们建议对COMA患者进行特征性检查时应包括测定血液中乳酸和丙酮酸的水平。
