hepatolenticular degeneration

The “double
panda sign” and central pontine signal changes in Wilson’s disease. “the face of the giant-panda” is due to a combination of high-signal intensity in the tegmentum (black arrow) with sparing of the red nuclei (white arrow) and the superior colliculi (curved arrow).
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The “double
panda sign” and central pontine signal changes in Wilson’s disease. T2-W axial image: bilateral, symmetric hyperintensities of the caudate nuclei (white arrows), the putamina (black arrows) and the thalami (curved arrows).
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The “double
panda sign” and central pontine signal changes in Wilson’s disease. “The face of the miniature panda” at the pontine tegmentum: hypointensity of the medial longitudinal fasciculi and the central tegmental tracts (white-arrows) and hyperintensity of the aqueduct opening into the 4th ventricle (black-arrows).
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Early MR
Imaging features of Wilson disease. T2-weighted axial images demonstrate bilateral symmetrical dominant hyperintensity of lentiform and caudate nuclei. Note of minimal signal changes in thalamus.
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Early MR
Imaging features of Wilson disease. T2-weighted axial images demonstrate bilateral symmetrical dominant hyperintensity of basal ganglia, mixed with small low signal foci.
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Early MR
Imaging features of Wilson disease. Axial T1-weighted images show symmetrical reduced signal in basal ganglia.
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Early MR
Imaging features of Wilson disease. Axial T2* GRE images demonstrate susceptibility changes with focal hypointensities in putamen.
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Early MR
Imaging features of Wilson disease. T2-fluid attenuated inversion recovery (Flair) coronal images reveal central reduced signal with peripheral hypointense rim, suggesting oedema/fluid contents.
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Radiopaedia • CC-by-nc-sa 3.0 • de

Wilson disease, also known as hepatolenticular degeneration, is a rare autosomal recessive disorder of copper metabolism affecting multiple systems.

Epidemiology

Wilson disease is commonly found in Japan. It affects 1 in 30,000-40,000 individuals . 1 in 90 individuals are a heterozygous carrier .

Clinical presentation

Clinical presentation is non-specific and varied, typically manifesting by early adulthood :

  • weakening of hands and dysarthria are often the earliest symptoms
  • dystonia
  • pseudoparkinsonian and cerebellar symptoms
  • psychiatric symptoms
  • liver disease (tends to be seen in early-onset presentations)

Asymptomatic Kayser-Fleischer rings are usually seen in the cornea and are a characteristic feature .

Pathology

It is a disorder that results from abnormal ceruloplasmin metabolism, as a result of a variety of mutations in the ATP7B gene. Total body copper is elevated that has toxic effects on hepatocytes with copper deposition and resulting damage to a variety of organs, e.g. liver and brain.

Three pathways affected mostly:

Markers
  • serum ceruloplasmin: reduced
  • serum copper: reduced
  • free serum copper: increased
  • urinary copper: increased

Radiographic features

Please see individual articles:

Treatment and prognosis 

Treatment options include chelation therapy which includes zinc, trientine, and penicillamine .

History and etymology

It was initially described by Samuel Alexander Kinnier Wilson, an American neurologist, in 1912 as "progressive lenticular degeneration" . Interestingly, Kayser-Fleischer rings were initially described a decade earlier by German physicians Bernhard Kayser and Bruno Fleischer in 1902 and 1903 respectively .

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Morbus Wilson:
Chondrokalzinose
 
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double panda
sign
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Nucleus
lentiformis
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