Sonographic detection of basal ganglia lesions in asymptomatic and symptomatic Wilson disease.
OBJECTIVE
To investigate whether transcranial brain parenchyma sonography (TCS) detects basal ganglia abnormalities in asymptomatic and symptomatic patients with Wilson disease (WD) and whether findings correlate with disease severity.


METHODS
Twenty-one patients with WD with (n = 18) or without (n = 3) neurologic symptoms were investigated. Disease severity was assessed by three independent neurologists using a WD rating scale (WDRS) with the items dysarthria, akinesia, ataxia, tremor, and dystonia; the raters' median score was used for further analysis. Basal ganglia TCS was performed according to a standardized protocol.


RESULTS
TCS revealed lenticular nucleus (LN) hyperechogenicity in all assessable neurologically symptomatic and in two of the three asymptomatic patients. Size of LN hyperechogenic area correlated with the WDRS score (Spearman correlation, rho = 0.604, p = 0.006), as did the size of thalamus hyperechogenic area (n = 7, rho = 0.891, p = 0.007), the width of third ventricle (n = 21, rho = 0.613, p = 0.003), and the width of lateral ventricles (n = 20, rho = 0.642, p < 0.001). Substantia nigra hyperechogenicity, detected in 10 patients, did not correlate with disease severity. There was no correlation between age at disease onset or disease duration and any TCS finding. Of the 19 patients with LN hyperechogenicity, only 12 showed abnormal LN on MRI.


CONCLUSIONS
Transcranial brain parenchyma sonography (TCS) detects lenticular nucleus hyperechogenicity, likely to be caused by copper accumulation, in neurologically symptomatic and asymptomatic Wilson disease (WD). TCS findings correlate with disease severity. TCS appears a promising tool for disease monitoring in WD.
Walter
U
U
Department of Neurology, University of Rostock, Rostock, Germany. uwe.walter@med.uni-rostock.de
Krolikowski
K
K
Tarnacka
B
B
Benecke
R
R
Czlonkowska
A
A
Dressler
D
D
D000328:Adult; D017668:Age of Onset; D001479:Basal Ganglia / Q000000981:diagnostic imaging* / Q000473:pathology* / Q000503:physiopathology; D003300:Copper / Q000378:metabolism; D018450:Disease Progression; D005260:Female; D005917:Globus Pallidus / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D006527:Hepatolenticular Degeneration / Q000000981:diagnostic imaging* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D020547:Lateral Ventricles / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011237:Predictive Value of Tests; D011699:Putamen / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D013378:Substantia Nigra / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D013788:Thalamus / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D017585:Ultrasonography, Doppler, Transcranial / Q000379:methods*
D003300:Copper