Wilson’s disease: cranial MRI observations and clinical correlation

Abstract

MRI changes were universal but diverse and involved almost all the structures of the brain in symptomatic patients. A fair correlation between MRI observations and various clinical features provides an explanation for the protean manifestations of the disease.

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.…”

Contribution of metals to brain MR signal intensity: review articles

“…It is known that copper has a relatively small paramagnetic effect on MRI [92,93] and that, on its own, copper accumulation does not directly cause signal intensity changes [91]. Brain MRI abnormalities in Wilson's disease patients include brain atrophy, symmetric regional hyperintensity on T2WI, hypointensity in basal ganglia on T2WI, and a hyperintense globus pallidus on T1WI [94][95][96]. The "face of giant panda" sign characterized by hypointensity in the red nucleus and substantia nigra surrounded by hyperintensity in the midbrain is known to be characteristic of patients with Wilson's disease, although it is only rarely seen [96,97].…”

“…Brain MRI abnormalities in Wilson's disease patients include brain atrophy, symmetric regional hyperintensity on T2WI, hypointensity in basal ganglia on T2WI, and a hyperintense globus pallidus on T1WI [94][95][96]. The "face of giant panda" sign characterized by hypointensity in the red nucleus and substantia nigra surrounded by hyperintensity in the midbrain is known to be characteristic of patients with Wilson's disease, although it is only rarely seen [96,97]. Hyperintensity on T2WI is observed in putamen (72 %), caudate (61 %), thalami (58 %), midbrain (49 %), pons (20 %), cerebral white matter (25 %), cortex (9 %), medulla (12 %), and cerebellum (10 %) [96], but these signal changes are the opposite to those produced by the paramagnetic effect of copper.…”

“…The "face of giant panda" sign characterized by hypointensity in the red nucleus and substantia nigra surrounded by hyperintensity in the midbrain is known to be characteristic of patients with Wilson's disease, although it is only rarely seen [96,97]. Hyperintensity on T2WI is observed in putamen (72 %), caudate (61 %), thalami (58 %), midbrain (49 %), pons (20 %), cerebral white matter (25 %), cortex (9 %), medulla (12 %), and cerebellum (10 %) [96], but these signal changes are the opposite to those produced by the paramagnetic effect of copper. The cause of this hyperintensity on T2WI is unclear, but edema, gliosis, neuronal necrosis, and cystic degeneration due to copper toxicity have all been proposed.…”

“…Hypointensity of the substantia nigra, striatum, and globus pallidus on T2WI is believed to be due to increased accumulation of both copper and iron (Fig. 3) [91,96,102]. Ceruloplasmin, which transports not only copper but also iron, is decreased in Wilson's disease, and this enhances iron accumulation in the body [89,90].…”