肝豆状核变性脑部MRI表现(附9例报告)

Brain MRI in Hepatolenticular Degeneration

目的：分析ＨＬＤ脑部ＭＲＩ征象及其与临床间的关系。材料与方法：对９例临床及化验证实的ＨＬＤ患者进行头部ＭＲＩ检查。结果：（１）发病部位依次为苍白球（７７．８％）、红核（６６．７％）、黑质（６６．７％）、导水管周围灰质（６６．７％）、壳核（５５．６％）、丘脑（５５．６％）、脑桥（３３．３％）；（２）ＭＲＩ主要表现为继发于铜沉积所致的长Ｔ１长Ｔ２信号。短Ｔ２信号出现机率较少；（３）病程愈长，累及部位愈多，ＭＲＩ表现愈明显，其临床症状亦愈明显。结论：ＨＬＤ脑部ＭＲＩ征象以继发改变为主；ＭＲＩ表现与临床症状。

Objective: To study MRI features of the hepatolenticular degeneration (HLD) and evaluate the possible correlation between MRI features and the clinical manifestations.Materials and Methods: Nine patients with HLD proven clinically and biochemically underwent MRI of brain. Results: (1) The common sites affected by HLD:globus pallidum (77.8%), red nucleus (66.7%), substantia nigra (66.7%), periaqueductal grey (66.7%), putamen (55.6%), thalamus (55.6%), and pons (33.3%) respectively. (2) All of the affected sites mainly revealed abnormal long T 1 and T 2 signal intensity as a result of the copper deposition. The incidence of the short T 2 signal intensity was less common. (3) The longer of the disease duration, the more sites affected, the more MRI features revealed, and the more clinical symptoms appeared.Conclusion: MRI features of the brain in HLD were mainly the changes secondary to the copper deposition. There was a good correlation between MRI features with the disease duration, clinical symptoms, and therapy.