Division of Pediatric Neurology, Chang Gung Children's Hospital, Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Pediatr Neurol. 2011 Aug;45(2):129-31. doi: 10.1016/j.pediatrneurol.2011.03.007.
Previous studies have rarely described the association between Noonan syndrome and moyamoya syndrome. Although most affected children with moyamoya exhibit ischemic symptoms, headache is also a frequent symptom. We report the case of a 9-year-old girl with Noonan syndrome and moyamoya syndrome that manifested as recurrent headaches without history of transient ischemic attack. Brain magnetic resonance imaging and magnetic resonance angiography revealed bilateral moyamoya syndrome and mild ventriculomegaly with focal encephalomalacia at right peritrigonal region. Disruption of vascular development during the prenatal stage has been proposed as the cause of cerebrovascular disease in Noonan syndrome. However, genetic factors may also contribute.
先前的研究很少描述努南综合征与烟雾病之间的关联。尽管大多数患有烟雾病的患儿表现出缺血症状,但头痛也是常见症状。我们报告了一例 9 岁女孩患有努南综合征和烟雾病,其表现为反复发作的头痛,无短暂性脑缺血发作病史。脑磁共振成像和磁共振血管造影显示双侧烟雾病和右旁三脑室区域局灶性脑软化的轻度脑室扩大。产前阶段血管发育中断被认为是努南综合征中脑血管疾病的原因。然而,遗传因素也可能有影响。