Wilson disease
MR shows abnormal hyperintense signal in bilateral basal ganglia, pons and dorsal midbrain.
It is an autosomal recessive inherited disorder of copper metabolism, characterized by excessive deposition of copper in the liver, brain, and other tissues.
Disease manifests as liver disease in children and adolescents, peaking at ages 10-13 years, and as neuropsychiatric illness in young adults aged 19-20 years. More common in females.
Imaging Findings
CT Findings
The cranial lesions observed on CT scan are typically bilateral and are classified into 2 general categories, as follows
- Well-defined, slitlike, low-attenuation foci involving the basal ganglia, particularly the putamen, and
- Larger regions of low attenuation in the basal ganglia, thalamus, or dentate nucleus.
Widening of the frontal horns of the lateral ventricles and diffuse cerebral and cerebellar atrophy, which correlate histologically with widespread neuronal loss, have also been described.
MR Findings
- T1WI
- T1 signal generally reduced in BG
- Signal intensity may be ↑ in affected BG (paramagnetic effects of copper)
- Detected only in untreated patients
- ↑ Signal in GP due to hepatic component of WD (portal-systemic encephalopathy)
- T2WI
- Generalized cerebral and cerebellar atrophy
- Hyperintensity/hypointensity/mixed intensity in putamen, GP, caudate, thalamus
- Characteristic \"face of the giant panda\" sign on axial sections at midbrain level
- Hyperintensity in tegmentum (except for red nucleus)
- Hypointensity of superior colliculus
- Preserved signal intensity of lateral portion of pars reticulata of substantia nigra
- Hyperintensity in periaqueductal gray matter, pontine tegmentum
- Involvement of dentate nucleus (↑ intensity)
Treatment
Chelating agents: Penicillamine, trientine, zinc, tetrathiomolybdate.