Wilson's disease: MRI with clinical correlation

Abstract

We tried to establish possible correlations between clinical data and MRI in a group of patients with Wilson's disease. Eleven patients (6 male, 5 female), aged between 11 and 50 years old, with a duration of illness from 5 months to 32 years, were submitted to MRI on a 1.5 T System. Three patients were asymptomatic, two had mild neurological disturbances, two were moderately affected and the remaining four had a severe form of the disease. All were receiving D-penicillamine at the time of the study. In the most symptomatic patients there were abnormalities in five or more sites on MRI. The putamen was affected in all symptomatic patients, including five with dystonia. A striking feature was the peripheral location of high signal putaminal lesions on T2-weighted images. In five cases, lesions in the corpus striatum or substantia nigra explained the patient's Parkinsonian features. MRI is an efficient method for studying involvement of the central nervous system in Wilson's disease, and allows some interesting anatomoclinical correlations.

Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson’s Disease

“…The disease is diagnosed based on clinical features, the presence of KF ring along with biochemical markers including low serum level of ceruloplasmin, increased serum copper concentration and increased urinary copper excretion (Ala et al 2007). MRI features in Wilson's disease have been well described in a number of studies (Prayer et al 1990;Starosta-Rubinstein et al 1987;Magalhaes et al 1994;Sinha et al 2006;van Wassenaer et al 1996). The disease predominantly involves deep grey matter structures, corpus callosum and brainstem.…”

Association Between Psychological Distress and Liver Disease Mortality: A Meta-analysis of Individual Study Participants

“…copper) or other 'toxins' that are detrimental to both brain and liver. 37,38 Indeed, raised serum transferrin saturation and greater dietary iron consumption has been linked to increased mortality. 39 In addition to the possibility of a causal relationship between psychological distress and liver disease, there is the possibility of a common cause; that is, factors that drive psychological distress may also drive liver disease.…”

Severe generalized dystonia due to primary putaminal degeneration: Case report and review of the literature

“…39 Although to date studies have not managed to compare this at the histological level with the striosome/matrix pattern, this pattern was reported to be reminiscent of the compartment-specific pattern of neuronal loss in Huntington's disease. 54 Dystonia is a feature of a number of neurodegenerative disorders characterized by pathology of the putamen, in addition to Huntington's disease, such as striatonigral degeneration, 55 Wilson's disease, 21 and chorea-acanthocytosis, 24,56 spinocerebellar ataxia III (Machado-Joseph disease), dentatorubropallidal atrophy, corticobasal ganglionic degeneration, Fahr's disease, and CreutzfeldtJacob disease. The clinical and neuropathological features of the present case are not consistent with these disorders.…”

“…Dystonia is a feature of hereditary degenerative disorders in which basal ganglia lesions are characteristic, such as Huntington's disease, Wilson's disease, [20][21][22] chorea-acanthocytosis, [23][24][25][26][27][28] Leigh's disease, 29 or basal ganglia calcification (Fahr's syndrome). [30][31][32] In other cases in which the etiology of the lesions has not been identified, neuroradiological reports have defined basal ganglia lesions which correlated clinically with dystonia.…”