MRI features show selective hypointensity / hyperintensity of the putamen
extensive bilateral frontal white matter gliosis with frontal atrophy, and
subcortical white matter with cortical atrophy.
Wilsonís disease is a disorder that causes the body to absorb and retain
amounts of copper. This disorder is an inherited autosomal recessive
trait, and is rare,
affecting about 1 in 30,000 people. It is caused by the ATP7B gene found
chromosome 13, and is most common in Europeans, and Southern Italians.
It usually occurs in people between the age of 4-40, but is commonly found
Wilsonís disease is usually discovered as a result of liver
The result of the genetic defect is a failure of the liver to get rid of
copper. This copper is
then deposited in the liver, brain, kidneys and the eyes. Copper
deposition in the liver
causes cirrhosis, necrosis, hepatosplenomegaly, and abdominal enlargement.
the brain, usually the basal ganglia cause CNS damage, resulting in loss
function, muscular control, tremors, loss of memory and intellectual
accompanied by increasing confusion and dementia if left untreated.
Deposits in the eye
result in restriction of eye movement, as well as build-up of brown
pigment in the cornea
called Kayser-Fleischer rings. Other symptoms include jaundice, weakness,
symptoms due to hemolytic anemia due to RBC damage.
The diagnosis is based on
A decreased ceruloplasmin level
An increase in the urine copper excretion
Presence of corneal Kayser-Fleischer ring
Large amounts of copper deposited in the liver (liver biopsy)
MRI - Imaging
Most MRI reports reveal low signal
intensities on T1WI and high signal intensity on
T2WI in the basal ganglia, due to copper deposits. Few unusual findings
mentioned in case reports: high signal intensities in the basal
ganglia on T1 (in a patient
with a porto-systemic shunt + encephalopathy) and enhancement of the
and cortico-medullary junction on MRI contrast study.
Patkar, MRI Center, Nanavati Hospital, Mumbai