Ⅰ型神经纤维瘤病合并烟雾综合征的临床表现及治疗预后

【摘要】
目的 初步探讨Ⅰ型神经纤维瘤病（neurofibromatosis type Ⅰ，NFⅠ）合并烟雾综合征（moyamoya syndrome，MMS）患者的临床表现、影像学特征及治疗预后。
方法 连续收集中国人民解放军第307医院神经外科2003年1月～2012年3月收治的NFⅠ-MMS患者，对其首发症状、首发年龄，血管病变的铃木分期等影像学特征、治疗方式，随访期内症状进展情况等进行分析。
结果 共收集4例患者，男女性别比为1∶3，症状首发年龄3例在18岁以下，1例为23岁。首发症状中，2例表现为短暂性脑缺血发作（transient ischemic attack，TIA），1例表现为头痛，1例表现为脑梗死。4例患者的6侧病变铃木分期分别为，1期2侧，2期1侧，4期2侧，6期1侧。3例患者行血管重建手术，1例未行手术治疗，随访时间最短为10个月，最长为72个月，随访期内3例手术患者症状改善明显。
结论 NFⅠ-MMS大多好发于儿童时期，首发症状以脑缺血症状为主，血管病变程度可表现为铃木分期的各个阶段，血管重建手术可能对改善临床症状有帮助，有助于改善患者预后。

Clinical Features and Prognosis of Moyamoya Syndrome Associated with Neurofibromatosis Type I

【Abstract】
Objective The aim of this study was to discuss the clinical features, imaging characteristics and prognosis of neurofibromatosis type I (NFI)-moyamoya syndrome (MMS).
Methods Four consecutive patients with NFI-MMS between January 2003 and March 2012 were obtained retrospectively from 307 Hospital of Chinese People's Liberation Army. The data included the symptoms onset, age, Suzuki stages, treatment and symptomatic progression.
Results The ratio of male-to-female patients was 1∶3, the age onset was under the age of 18 in 3 cases and another case was 23 years old. For the onset of symptoms, 2 cases presented with transient ischemic attack (TIA), the other 2 cases appeared headache and cerebral infarction. For Suzuki's stage, in 6 sides of 4 patients, there were 2 sides in stage 1, 1 side in stage 2, 2 sides in stage 4 and 1 side in stage 6. Three patients received revascularization surgery, the average follow-up time was from 10 to 72 months, and the symptoms improved significantly during the follow-up.
Conclusion MMS associated with NFI occurred more commonly in childhood, the most common symptoms was ischemia, and the degree of vascular stenosis can be presented with each Suzuki's stage. Revascularization surgery may improve the clinical symptoms and the prognosis of patients.