Magnetic resonance imaging and proton MR spectroscopy in Wilson's disease.

Abstract

MRI of the brain and liver using T2 relaxation time measurements and proton spectroscopy (1H-MRS) of the brain was performed in four siblings with Wilson's disease (one with clinical disease and three asymptomatic) as well as age- and sex-matched control subjects. The T2 values of the liver were correlated with liver biopsy results. 1H-MRS of the left and right globus pallidus was obtained. The patient with clinical disease was examined three times, and two of three asymptomatic siblings twice. MR images of the brain were abnormal in all four patients. High signal intensity areas in the posterior thalamus, general atrophy and pontine myelinolysis were present in the patient with clinical manifestations. The T2 measurements of these areas confirmed the results of image analysis. Apart from general brain atrophy, the changes in the patient with clinical disease were largely reversible. The T2 values were significantly different from those of the control subjects only in the globus pallidus. The NAA/Cho, NAA/Cr and Cho/Cr ratios from the 1H-MR spectra of globus pallidus showed no significant difference between patients and control subjects. The mean values of NAA/Cho and NAA/Cr were lower in patients with Wilson's disease than in the control subjects. One of the patients had hepatic steatosis, but the liver T2 values were no different to those of the control subjects. In conclusion, the MRI findings reflect the success of the specific therapy in patients. MRI thus seems to be useful in the follow-up of Wilson's disease.

Structural and neurochemical evaluation of the brain and pons in patients with Wilson’s disease

“…4,9,10 The decrease in NAA levels indicates neuronal injury and loss because regeneration capacity of the neurons is limited. 3,13 On the other hand, increased Cho/Cr ratios may be the result of gliosis and changes in membrane metabolism. 10 Various MRS studies have demonstrated neuronal injury in the basal ganglia of WD patients.…”

“…[1][2][3] Evidence of severe mitochondrial dysfunction in the livers of WD patients has been reported, suggesting that both free-radical formation and the ensuing oxidative damage, probably mediated by mitochondrial copper accumulation, play a role in the etiopathogenesis of WD. 1,2 However, the exact etiopathogenesis of the neurological dysfunction in WD is not yet clear.…”

“…9,10 MRS has been used with very high sensitivity to detect the structural abnormalities in the basal ganglia of WD patients with neurological involvement. [1][2][3] MRS can aid analysis of the severity of neuronal injury and the effect of chelation before and after the treatment. 12 Studies on spectroscopic metabolite changes in the basal ganglia of WD patients have been conducted, but there have been few studies assessing the neurochemicalstructural changes in the cerebral white matter and pons.…”

Transcranial Sonographic Findings in Wilson Disease

“…Several MRI abnormalities have been described in WD; on T2-weighted images, WD is suggested by atrophy, putaminal lesions with a pattern of bilateral concentric-laminar T2 hyperintensity, and involvement of the pars compacta of the substantia nigra (SN), periacqueductal gray matter, pontine tegmentum, and thalamus. 3,4 Nevertheless, today's modern ultrasound systems allow highresolution B-mode imaging of brain parenchyma, and in the clinical workup, the use of TCS for early recognition and differential diagnosis of neurodegenerative disorders is promising. 8 In a recent study on 21 patients affected by WD with or without neurologic symptoms, TCS revealed LN hyperechogenicity in all symptomatic patients and in 2 of 3 asymptomatic patients.…”

“…[3][4][5] As a consequence of basal ganglia involvement, neurologic features of the disease include movement disorders such as a motor coordination deficit, slowness of voluntary limb movements, tremors, dystonia, dysarthria, writing tremors, 6 and fine-motor disturbances. 7 Diagnosis relies on typical neurologic symptoms, the presence of Kayser-Fleischer rings, and a reduced serum ceruloplasmin concentration.…”