Background: Susceptibility-weighted imaging (SWI) is a useful tool for evaluating brain paramagnetic mineralization. The aim of this study was to evaluate SWI filtered phase shift in brain gray nuclei of Wilson's disease (WD). Methods: Twenty-three WD patients and 23 age-and gender-matched healthy controls underwent SWI. Phase values of bilateral brain gray nuclei were measured on corrected phase image of all subjects. results: Compared with healthy controls, WD patients showed a trend of negative phase shift in all regions of interest, and significantly lower phase value was found in bilateral putamen (PU) (left P = 0.009, right P = 0.001), caudate (left P = 0.001, right P = 0.001), thalamus (TH) (left P < 0.001, right P < 0.001), red nucleus (left P = 0.031, right P = 0.049), and substantia nigra (left P = 0.003, right P = 0.047). The WD patients groups were divided into neurological, hepatic, and asymptomatic onset subgroups. And neurological onset patients had lower phase value than hepatic onset patients on bilateral PU (left P = 0.025, right P = 0.002) and TH (left P = 0.025, right P = 0.025). conclusion: Abnormal negative phase value was significantly increased in brain gray nuclei of WD patients, giving evidence in vivo about paramagnetic mineralization accumulating in brain gray nuclei. The phase shift of SWI could be used as a potential biomarker to help in diagnosing and evaluating WD.
Wilson's disease (WD), known as hepatolenticular degeneration, is an autosomal recessive inherited disorder of copper metabolism. It is characterized by an excretion dysfunction of copper, leading to the toxic deposition in the liver and the brain, causing chronic liver disease or/and progressive neurologic and psychiatric impairment. Liver and brain biopsy have demonstrated copper deposition of WD in liver and brain (1,2). Animal model studies have also indicated that copper and iron accumulate in brain striatum and substantia nigra (SN) (3,4). Magnetic resonance imaging (MRI) is a useful tool for diagnosis of various neurometabolic diseases, and has been used to diagnose and evaluate prognosis of WD. It is characterized with T2-weighed imaging (T2WI) and T2 weighted fluid attenuated inversion recovery (T2-FLAIR) hyperintense lesions, T1-weighted imaging (T1WI) hypointense lesions involving bilateral lenticular nucleus, caudate (CA) nucleus, and/or thalami, midbrain, with "face of the giant panda" sign in the midbrain and "face of panda cub" sign in the pons (5,6). Although Andersen et al. have reported the abnormal high signal on T1WI and low signal on T2WI in MR imaging of WD patients, speculating the probability of paramagnetic effect of the copper accumulation (7). However, the high-signals on T2WI in brain gray nuclei, which represent pathological changes, such as edema, gliosis, neuronal necrosis, or spongiform degeneration (8,9), usually cover up the paramagnetic T2 hypointense. Thus, it is difficult for traditional MR imaging to evaluate the brain mineral deposition in WD patients.Recently, improved MRI techniq...