Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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May 26, 2016
Wilson Disease
- Background:
- Wilson disease is an autosomal recessive condition characterised by abnormal copper accumulation in tissues, typically the liver and brain.
- It is due to a deficiency of ceruloplasmin, the serum transport agent for copper.
- Clinical Presentation:
- Liver and brain copper accumulation leads to hepatic dysfunction and neuropsychiatric features.
- Typically, Parkinsonian type features are observed, such as tremor, ataxia, and difficulty speaking.
- Kayser-Fleisher rings, representing copper deposition in the corneal limbus, are characteristic. Serum copper and ceruloplasmin are decreased, and urinary copper excretion is increased, with 24-hour urine copper excretion greater than 40 mcg/day.
- Key Diagnostic Features:
- The most frequent abnormality on brain MRI is symmetrical increased T2 signal in the putamina, followed by the caudate, globus pallidus, thalamus, midbrain, and pons. The thalamic involvement is typically ventro-lateral.
- In the early stages of the disease diffusion restriction is demonstrated in the affected areas.
- The “Face of the Giant Panda” sign can be seen in Wilson’s disease (not depicted). It refers to T2 hyperintensity of the midbrain, excluding the red nuclei (eyes of the Panda) and lateral pars reticulata of the substantia nigra (ears of the Panda), which appear hypointense, together with hypointensity of the superior colliculi.
- Differential Diagnosis:
- Metabolic and toxic conditions, including hypoxic ischaemic encephalopathy, hypoglycaemia, liver disease (hyperammoniaemia), Leigh disease, osmotic myelinolysis, and carbon monoxide poisoning
- Treatment:
- Treatment includes oral chelating agents such as D-penicillamine and avoidance of dietary copper.
- Treatment of severe liver disease includes transjugular intra-hepatic shunting and liver transplantation.
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