Wilsons disease

What is Wilson’s disease? 

Wilsons disease is an autosomal recessive disease; the gene is linked to markers located in the q14–21 region on chromosome 13.

The prevalence of the disease is estimated to be 1 in 30,000.

It is associated with impaired incorporation of copper into ceruloplasmin as well as impaired biliary excretion of copper.

The result is copper overloading in the liver, cornea, and brain, particularly in the basal ganglia.

Virtually all patients display laboratory and/or clinical evidence of liver insufficiency.

The most useful laboratory-screening test is plasma ceruloplasmin, which usually is less than 20 mg/dL (normal: 24 to 45 mg/dL).

The most common neurologic findings are parkinsonism, bulbar signs (e.g., dysarthria and dysphagia), dystonia, postural tremor, and ataxia.

Psychiatric symptoms, such as depression and psychosis, are particularly common among adults. 

MRI of the head may display either decreased or increased signal intensity in the striatum on T2-weighted images.

MRI of the midbrain may show a specific “face of a giant panda” appearance, which is produced by reversal of the normal hypointensity of the substantia nigra, midbrain tegmentum, and hypointensity in the superior colliculi.

How is Wilsons disease treated? 

Early diagnosis is essential because treatment with copper-chelating agents often completely reverses the neurologic and hepatic symptoms.

All siblings and cousins should be screened because presymptomatic patients require treatment to prevent development of symptoms. 

d -Penicillamine is the drug of choice for Wilson’s disease; the typical dose is 250 mg four times/day given in combination with pyridoxine (25 mg/day).

Side effects are initial exacerbation of symptoms, rash, optic neuritis, thrombocytopenia, leukopenia, and nephrotoxicity.

Other options to decrease copper overload are triethylene tetramine dihydrochloride, zinc sulfate, and tetrathiomolybdate.

Symptomatic treatment of neurologic symptoms includes levodopa, anticholinergics, and injections of botulinum toxin.

Liver transplant may be necessary in terminal cases of hepatic insufficiency.

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