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我们报告两例在我们医疗中心治疗的先天性颅神经异常支配综合征(congenital cranial dysinnervation disorders,CCDD)。其中1例是7岁的中国女孩,无内科疾病,其父母注意到从婴孩时起患者习惯性向一侧倾斜头部,并伴有“眼懒惰”。双眼视力为斯内伦视力表6/6,头向右倾斜。水平或垂直注视时双眼外展受限,试图内转向下看时伴眼球内陷。另1例是10岁的马来西亚男孩,无内科疾病,其父母注意到自出生该男孩就“眼球运动差”。双眼视力为6/6,脸向左转并且双眼上睑下垂。在所有注视方位上眼球运动均受限,强制转向试验阳性。两个病例初步诊断均为先天性眼外肌纤维化(congenital fibrosis of extraocularmuscle,CFEOM),后来第一个病例的诊断修订为双侧Duane综合征。虽然Duane综合征和CFEOM都包括在CCDD内,但两种疾病病理不同。CCDD的表现非常多变,然而,治疗往往是有限的,且手术结果不可预测。因此,仍然需要进行大量研究以更深入了解CCDD,改善其治疗和结局。
We report two cases of congenital cranial dysinnervation disorders (CCDD) treated in our medical center. One of them was a 7-year-old Chinese girl who had no medical problems. Her parents noticed that the patient habitually tilted his head to one side, accompanied by “lazy eyes” from the baby. Binocular vision for Snellen chart 6/6, head tilted to the right. Horizontal or vertical eyes restricted when the outreach, trying to look down when the eye with retraction. The other was a 10-year-old Malaysian boy who had no medical problems and whose parents noticed that the boy had “bad eye movements” since the boy was born. Binocular vision was 6/6, face turned left and both eyes ptosis. Eye movement was limited in all gaze positions and forced steering test was positive. The initial diagnosis of both cases was congenital fibrosis of extraocular muscle (CFEOM), and later the diagnosis of the first case was revised to be bilateral Duane syndrome. Although both Duane syndrome and CFEOM are included in the CCDD, the pathology varies between the two diseases. The performance of CCDD is very variable, however, the treatment is often limited, and the outcome of the operation is unpredictable. Therefore, a great deal of research is still needed to understand CCDD better and to improve its treatment and outcome.