NEURORADIOLOGY


 
Case 15 :  

A 16-year-old male presents with jaundice and tremors. Following a clinical examination, and routine lab parameters, an MRI brain is requested.

What is the diagnosis?

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Imaging Features
MRI features show selective hypointensity / hyperintensity of the putamen on T1/T2,
extensive bilateral frontal white matter gliosis with frontal atrophy, and hypointensity of
subcortical white matter with cortical atrophy.
 

Diagnosis
Wilsonís disease
 

Discussion
Wilsonís disease is a disorder that causes the body to absorb and retain excessive
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 on
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 in teenagers.
 Wilsonís disease is usually discovered as a result of liver disease symptoms.
 

Pathology
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. Deposits in
the brain, usually the basal ganglia cause CNS damage, resulting in loss of motor
function, muscular control, tremors, loss of memory and intellectual function,
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, and
symptoms due to hemolytic anemia due to RBC damage.

 Diagnosis
 
The diagnosis is based on
        
1)      A decreased ceruloplasmin level
         2)      An increase in the urine copper excretion
         3)      Presence of corneal Kayser-Fleischer ring
         4)      Large amounts of copper deposited in the liver (liver biopsy)
 

MRI - Imaging Findings
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 have been
 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 cerebral cortex
 and cortico-medullary junction on MRI contrast study.

 

 

Dr. Deepak Patkar, MRI Center, Nanavati Hospital, Mumbai