先天性颅神经异常支配综合征2例(英文)

Aberrant innervations in congenital cranial dysinnervation disorders: case reports

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 describe two cases of congenital cranial dysinnervation disorders（CCDD） who were seen at our centre.The first patient was a 7-year-old Chinese girl with no medical illness,who was noted by her parents to have a habit of tilting her head to one side and ＂lazy eyes＂ since she was a toddler.Best-corrected visual acuity（BCVA） in both eyes were 6/6 on Snellen chart and her head was tilted to the right.There was limitation of abduction in both eyes on horizontal gaze.Enophthalmos was seen associated with down shooting on attempted adduction.The second case was a 10-year-old Malay boy with no medical illness,who was noted by his parents to have ＂poor eye movements＂ since birth.BCVA in both eyes were 6/6 on Snellen chart with a left face turn and bilateral ptosis.Eye movements in all gazes were restricted and force duction test was positive.Both cases were diagnosed as congenital fibrosis of extraocular muscle（CFEOM） initially,but the diagnosis of the first case was later revised as bilateral Duane syndrome.Although both Duane syndrome and CFEOM are included under CCDD,both entities have distinct pathology.The presentation of CCDD is extremely variable.Nonetheless,the treatment is often limited and surgical outcome is often unpredictable.Hence,much research is still needed to be carried out for more in depth understanding of CCDD,so as to improve the management and outcome of the disease.