Wilson disease of the brain: MR imaging.

Aisen, Alex M.; Martel, William; Gabrielsen, Trygve O.; Glazer, G M; Brewer, George J.; Young, Ari; Hill, Gary S.

doi:10.1148/radiology.157.1.4034959

Cited by 103 publications

(35 citation statements)

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“…4,5 Early MRI in our patient also demonstrated typical T2-weighted hyperintensities in the putamen and thalamic regions ( figure, A). Subsequently, after 3 years of therapy ( figure, B), there was extensive subcortical white matter hyperintensities affecting frontal, temporal, and parietal regions and marked hypointensity in the putaminal region in the same sequence.…”

supporting

confidence: 56%

Brain shrinkage due to acute hypernatremia

Takeshi¹,

Yoshizawa²

2006

Neurology

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Abstract-Wilson disease (WD) produces typical lesions in the brain, which can aid in diagnosis and therapy. The authors present a drug-resistant WD case with atypical cerebral lesions with marked involvement of white matter as visualized on MRI scans. The diagnosis was confirmed by identification of mutations in the ATP7B gene. The case demonstrates an uncommon pathology-related cerebral copper accumulation and emphasizes the importance of genetic screening in the diagnosis of WD. NEUROLOGY 2006;67:878-880 D. Aikath, MBBS*; A. Gupta, MSc*; I. Chattopadhyay, PhD; M.A. Hashmi, MD (Radio); P.K. Gangopadhyay, DM (Neuro); S.K. Das, DM (Neuro); and K. Ray, PhDWilson disease (WD) is an autosomal recessive metabolic disorder of copper accumulation, caused by defects in the gene for ATP7B, a P-type ATPase, responsible for the transport of copper to the vesicles for excretion. 1 WD manifests with hepatic and neurologic findings, with or without accompanying psychiatric features. The common neurologic features are rigidity, dystonia of limbs and trunk, dysarthria, tremor, and drooling. The diagnosis of purely neurologic forms of WD is difficult, with a mean delay of 12.8 years.2 A T2-weighted MRI scan aids the diagnosis of cases where the accumulation of copper in the subcortical gray matter and other areas produces typical lesions as visualized by T2-weighted and fluid-attenuated inversion recovery images. Here, we describe a patient with a neurologic WD, who failed to respond to treatment for 3 years. MRI scans of the brain show atypical changes, though the patient was not diagnosed with any other neurologic disease. The case represents a neural pathogenesis that causes higher involvement of white matter and gross and disproportionate cerebral atrophy.Case summary. The 11-year-old boy was born to nonconsanguinous parents and had normal developmental milestones. He presented with an 8-month history of difficulty of movement and deformity of the limbs, progressing gradually proximally starting from the right toes, and a 2-month history of slurring of speech. He had behavioral abnormalities in the form of anger outbursts, refusal to talk for prolonged periods (up to 2 weeks), and uncontrolled laughter. There were two episodes of loss of consciousness lasting 5 minutes each about 2 years before presentation, without any complications.The patient was uncooperative, severely dysarthric, and unable to follow verbal commands. He had K-F rings in both eyes. All four limbs were wasted, with dystonic posturing, and with contracture at the ankles. Tone of the flexors was increased in the upper limbs, and extensors were increased in the lower limbs. Palmomental reflex was positive, and deep tendon reflexes of lower limbs were brisk, plantar response being bilaterally extensor. Episodes of hypotension were never recorded.In spite of treatment with D-penicillamine and other symptomreducing drugs (e.g., antidystonic drugs) for 3 years, the patient became completely bedridden and worsened clinically. He was not responding to painful s...

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supporting

confidence: 56%

Brain shrinkage due to acute hypernatremia

Takeshi¹,

Yoshizawa²

2006

Neurology

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“…Numerous reports exist where focal lesions in the thalamus, the brain stem, the dentate nuclei, the cerebral white matter and the basal ganglia of patients with WD are found using magnetic resonance imaging, and their pathogenesis is extensively discussed (Aisen et al, 1985;De Haan et al, 1987;Grimm et al, 1991;Lawler et al, 1983;Magalhaes et al, 1994;Metzer and Angtuaco, 1986;Prayer et al, 1990;Roh et al, 1994). Focal edema, nerve cell loss, demyelination, gliosis, intracellular deposition of haemosiderin and cavitation have been surmised to represent the morphological changes correlating to the magnetic resonance findings in WD.…”

Section: Discussionmentioning

confidence: 99%

Dopamine D2 receptor binding is reduced in Wilson's disease: Correlation of neurological deficits with striatal123I-Iodobenzamide binding

Oder

Brücke

Kollegger

et al. 1996

J. Neural Transmission

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To visualise and quantify dopamine D2 receptor binding in the corpus striatum of patients with neurological Wilson's disease (WD) 123I-Iodobenzamide (IBZM) binding was measured using single photon emission computer tomography (SPECT). Ratios of striatal to frontal countrates were calculated in 8 patients and in 21 healthy control subjects. We found reduced IBZM binding ratios in all patients with WD in comparison to those in controls (1.48 +/- 0.13 vs. 1.73 +/- 0.09). The reduction in IBZM binding was correlated with the overall severity of neurological deficits and the severity of dysarthria (correlation coefficients -0.86 [p < 0.01] and -0.79 [p < 0.01], respectively). When patients of three different subgroups of neurological WD were compared no differences in IBZM binding were found. We conclude that assessing basal ganglia function in vivo using IBZM-SPECT is a valuable diagnostic tool in WD.

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“…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].…”

Section: Coppermentioning

confidence: 99%