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Duane type i retraction syndrome associated with Wyburn-Mason syndrome

机译：与Wyburn-Mason综合征相关的Duane I型回缩综合征

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Purpose: Our aim is to report the co-existence of Duane's retraction syndrome and Wyburn-Mason syndrome, a rare condition characterized by arteriovenous malformations (AVMs) in the central nervous system and retina. Methods: An 11-year-old boy was referred for evaluation of strabismus present since birth. On examination his uncorrected visual acuity was 6/6 in each eye, with small angle left eye esotropia in the primary position, ipsilateral face turn, abduction deficit, lid fissure narrowing in adduction and widening in abduction; plus typical features of left-sided type I Duane syndrome were present. The left fundus demonstrated localized, well-compensated, markedly convoluted, dilated and tortuous retinal vessels and venous congenital retinal macrovessel, which traverse the macular region. The right fundus was unremarkable. In order to elucidate if this retinal vascular malformation is associated with similar lesions in the orbit, paranasal sinuses and/or brain, magnetic resonance imaging (MRI) was performed, followed by digital subtraction angiography of the brain vessels. Results: Clinical features of retinal disease (typical retinal vascular malformation) and brain imaging studies have led to the diagnosis of Wyburn-Mason syndrome. Digital subtraction angiography of the brain revealed an AVM of 30 mm maximal diameter in the left occipital lobe. Conclusions: Intracranial AVM might have affected the normal vascular development during the second month of gestation, causing involutional changes of the sixth nerve and resulted in Duane's syndrome by "steal phenomenon." Retinal AVM may point to concomitant intracranial AVMs, thus warranting neurological assessment. Patients with AVM of the retina should be examined early with brain and orbital neuroimaging to rule out cerebral AVMs.
机译：目的：我们的目的是报告杜安氏回缩综合征和怀本·梅森综合征的共存，这是一种罕见疾病，以中枢神经系统和视网膜的动静脉畸形（AVM）为特征。方法：一个11岁的男孩被转诊以评估其自出生以来出现的斜视。检查时，他的每只眼睛的未矫正视力为6/6，主要位置为小角度左眼内斜视，同侧面部转弯，外展不足，内lid裂变窄，内展变宽。以及左侧I型Duane综合征的典型特征。左眼底表现出遍及黄斑区的局部，补偿良好，明显回旋，扩张和曲折的视网膜血管和静脉先天性视网膜大血管。正确的眼底不明显。为了阐明这种视网膜血管畸形是否与眼眶，鼻旁窦和/或大脑中的类似病变有关，进行了磁共振成像（MRI），然后进行脑血管数字减影血管造影。结果：视网膜疾病的临床特征（典型的视网膜血管畸形）和脑成像研究已导致Wyburn-Mason综合征的诊断。脑的数字减影血管造影显示左枕叶最大直径为30 mm的AVM。结论：颅内AVM可能会影响妊娠第二个月的正常血管发育，引起第六神经的内向变化，并因“窃取现象”而导致Duane综合征。视网膜AVM可能指向伴随的颅内AVM，因此值得进行神经系统评估。视网膜AVM患者应及早进行脑和眶神经影像检查，以排除脑AVM。

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