摘要
目的探讨Von Hippel-Lindau(VHL)综合征的影像学表现,提高VHL综合征的诊断水平。方法回顾性分析5例经过临床或基因检测确诊的VHL综合征患者的影像学表现。结果 4例VHL患者初次发病以神经系统症状就诊,1例以颈肩痛就诊;检查后发现3例有一侧小脑半球血管母细胞瘤,2例双侧小脑半球多发血管母细胞瘤;2例患者发现有颈髓内多发占位性病变,4例有胸髓异常;多囊胰及双肾囊肿见于3例;2例有肝脏血管瘤;其中1例患者颅内血管母细胞瘤术后5年右眼视力进行性下降伴左眼视力模糊,复诊发现小脑多发血管母细胞瘤及左眼多发视网膜母细胞瘤,同时伴有左眼孔源性视网膜剥离及右眼陈旧性视网膜脱离。5例患者均未发现有家族遗传史。结论 VHL综合征是一类全身性的疾病,大部分患者以单一系统病变就诊,而且以年轻人发病为主,后期病死率高,如果从影像检查上能够早期发现及早期诊断,就能给临床医师的早期治疗提供帮助,能从本质上减少并发症的发生并提高患者的生活质量;特别是有小脑半球血管母细胞瘤的年轻人,医生都应该做胰腺及肾脏影像学检查筛查,从而减少对VHL综合征的漏诊率及误诊率。
Objective To explore the imaging features of VHL syndrome and to improve the diagnostic level of this disease. Methods Five patients with VHLdisease confirmed by operation and genetic testing were reviewed retrospectively, and analyzed the imaging findings. Results Four cases of VHL patients with first onset with nervous system symptoms, 1 case with neck and shoulder pain;After imaging examination found on one side of the 3 cases of cerebellar hemangioblastoma, 2 cases had bilateral cerebellar hemangioblastoma;2 patients were found to have frequent in the cervical spinal space-occupying lesions, 4 cases with thoracic spiral cord abnormalities; polycystic pancreas and renal cyst was found in 3 cases;2 cases with hepatic hemangioma; which 1 cases with intracranialhemangioblastoma operation after 5 years of progressive vision in the right eye was decreased with blurred vision inthe left eye, visit found that the cerebellar hemangioblastoma and multiple retinoblastoma in her left eye, at the same time companion has eye rhegmatogenous retinal detachment in the left eye and old retinal detachment in the right eye. No family history was found in 5 cases. Conclusion VHL disease is a systemic disease, the majority of patients with a single system lesions, and given priority to with the young onset, late mortality rate is high, if we can find out from the imaging early detection and early diagnosis, we can provide help to the early treatment of clinical doctors,can sub-stantially reduce the occurrence of complications and improve the patient′s quality of life; especially of young people with cerebellar hemangioblastoma, we should do the pancreas and kidney imaging screening, thereby reducing the rate of missed diagnosis and misdiagnosis rate of VHL disease.
出处
《实用医学影像杂志》
2017年第1期25-27,共3页
Journal of Practical Medical Imaging
