论文部分内容阅读
目的探讨Menkes病患者的头颅MRI影像学表现。方法对一家系3例Menkes病患儿的头颅MRI资料进行回顾性分析。结果 3例患儿均可见脑白质异常信号及颈动脉、椎-基底动脉血管迂曲、增多;2例脑萎缩、硬膜下血肿;2例行1H-MRS检查,其中1例右侧丘脑于1.4 ppm可见高大的脂质峰,左侧丘脑、右侧基底节胆碱峰升高,另一患儿双侧放射冠前部胆碱峰升高。结论 Menkes病的MRI表现具有特征性,MRI对Menkes病的诊断有重要价值。
Objective To investigate the MRI manifestations of head in patients with Menkes disease. Methods A retrospective analysis of cranial MRI data of 3 children with Menkes disease in a pedigree was performed. Results All three patients showed signs of abnormal white matter and carotid artery, vertebrobasilar artery tortuosity and increased; 2 cases of brain atrophy and subdural hematoma; 2 cases of 1H-MRS examination, 1 case of right thalamus at 1.4 ppm visible tall lipid peak, the left thalamus, right basal ganglia choline peak increased in the other children with bilateral pre-irradiation crown choline peak. Conclusion MRI manifestations of Menkes disease are characteristic. MRI is of great value in the diagnosis of Menkes disease.