Learning objectives
To illustrate the spectrum of intracranial MR manifestations of Wilson disease.
Background
Wilson disease is an inborn (autosomal recessive) error of copper metabolism characterized by inability of the liver to excrete copper into the bile,
with excessive deposition of copper primarily in the liver and in the brain.
Wilson disease occurs in 1 to 4 per 100,000 people and symptoms usually appear between the ages of 6 and 20 years.
In Wilson disease,
ceruloplasmin,
the serum transport protein for copper,
is deficient.
Copper accumulates in the tissues of patients primarily in the liver and later in the...
Imaging findings OR Procedure details
Patients were categorized into 5 groups on the basisof MR findings.
Group-I (n=16) showed normalMR imaging findings.
Group-II (n=8) was characterized by increased signal intensity on T1-weighted images (Fig.
1-3),
while
Group-III (n=6) demonstrated increased basal ganglia signal on T2-weighted images (Fig.
4-11).
Group-IV (n=2) demonstrated atypical pattern of predominant thalamic and brainstem involvement with no significant involvement of the lentiform nuclei (Fig.
12,
13).
Group-V (n=1) demonstrated isolated claustral involvement (Fig.
14).
The mean ages of groups I,
II,
III,
IV and V were...
Conclusion
Wilson diseasecan demonstrate a varied spectrum of intracranial manifestations which can be categorized into distinct groups based upon the MR imaging manifestations.
The most frequently identified abnormality on MR imaging is bilateral symmetric high signal intensity in thebasal ganglia (and/ orthalamus and brainstem)on T2-weighted images.
High-signal-intensity lesions on T2-weighted images reflect cerebral involvement of Wilson disease and show a good correlation with neurologic symptoms.
BrightClaustrum and isolated thalamic-and-brainstem involvement are uncommon intracranial manifestations of Wilson disease.
High-signal-intensity lesions in the basal ganglia on T1-weighted images...
References
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