Wilson's disease


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Related to Wilson's disease: Huntington's disease

Wilson's disease

 [wil´sunz]
a rare progressive disease, inherited as an autosomal recessive trait and due to a defect in metabolism of copper, with accumulation of copper in the liver, brain, kidney, cornea, and other tissues. Characteristics include cirrhosis of the liver and degenerative changes in the brain, particularly the basal ganglia. Liver disease is the most likely manifestation in children; neurologic disease is most common in young adults. The characteristic ophthalmic feature is a pigmented ring (Kayser-Fleischer ring) at the outer margin of the cornea. Called also hepatolenticular degeneration.

Wilson's disease

Etymology: Samuel A. K. Wilson, English neurologist, 1878-1937
a rare inherited disorder whereby a decrease in ceruloplasmin causes copper to accumulate slowly in the liver, to then be released, and to be taken up in other parts of the body. Hemolysis and hemolytic anemia occur as the copper accumulates in the red blood cells. Accumulation in the brain destroys certain tissue and may cause tremors, muscle rigidity, poorly articulated speech, and dementia. Kidney function is diminished. The liver becomes cirrhotic. Treatment of Wilson's disease includes a reduction of copper in the diet and the prescription of copper-binding agents and penicillamine. Also called hepatolenticular degeneration.

Wilson's disease

Neurology An AR disorder of copper metabolism characterized by accumulation of copper in the brain, liver, and other organs Clinical Cirrhosis, degeneration of basal ganglia and neurologic deterioration with involuntary movement, tremors, muscular rigidity, spastic contractures, psychiatric defects, dysphagia, Kayser-Fleischer ring. See Ceruloplasmin, Copper.

Wilson's disease

A rare genetic disorder in which copper accumulates in the body, especially in the liver and brain, causing CIRRHOSIS and brain damage. There are behaviour abnormalities and personality changes, writhing movements of the limbs (athetoid movements), muscle rigidity and shortening, dementia and, in untreated cases, death. If diagnosed early, often by the observation of a ring of greenish-brown discoloration in each cornea (KAYSER-FLEISCHER RING), the condition may be controlled with a diet low in copper and the use of the drug d-penicillamine, which binds copper into a form which is excreted in the urine. Also known as hepato-lenticular degeneration. (Samuel Alexander Kinnier Wilson, 1878–1937, American-born English neurologist).

Wilson's disease

An inborn defect of copper metabolism in which free copper may be deposited in a variety of areas of the body. Deposits in the brain can cause tremor and other symptoms of Parkinson's disease.
Wilson's disease generalized skin erythema, exfoliation and scaling

Wilson's disease

proposed as a model for chronic copper toxicosis in Bedlington and West Highland white terriers but there are significant differences. Called also hepatolenticular degeneration.

Patient discussion about Wilson's disease

Q. Hi this is Wilson; I have a daughter, who is 5. She has frequent nose bleeds when she is behaving badly. Hi this is Bell; I have a daughter, who is 5. She has frequent nose bleeds when she is behaving badly. She has been screened by her school for ADHD and I haven’t had a chance to consult a doctor for her screening and exam for ADHD. I thought that her nose bleeds cause due to her behavior? I need help.

A. I don’t have an idea about this. But I think that you should first discuss these issues with your doctor. Also mention to the doctor if she has any problems with sleeping, like only sleeping 6 hours a night. Try with occupational Therapists which help children and adults with small motor issues like handwriting and also with sensory issues like learning how to calm down. Early intervention is always best.

More discussions about Wilson's disease
References in periodicals archive ?
EFFECT OF WILSON'S DISEASE ON PREGNANCY: Effect of Wilson's disease on pregnancy is essentially due to either accumulation of copper or due to much lowered plasma copper levels because of medication used for chelating Copper.
Penicillamine challenge test in the diagnosis of Wilson's disease.
Ferenci in his mammoth research also concludes that there has been no single large randomised controlled trial that establishes a consensus on Wilson's disease diagnosis [12].
This group is further divided into as those affecting the deep gray matter as in brain metabolite accumulation disorders like Wilson's disease with copper accumulation and PKD or NBIA type 1 with Iron deposition.
Keywords: Children, movement disorders, neurotoxicity, Wilson's disease
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level.
Wilson's disease is a consequence of defective biliary excretion of copper.
The differential diagnosis includes OCD, anorexia nervosa, avoidant/restrictive food intake disorder, Tourette syndrome, transienttic disorder, bipolar disorder, Sydenham's chorea, autoimmune encephalitis, systemic autoimmune disease, and Wilson's disease.
Obtain a MRI to assess atypical tremor; findings might reveal Wilson's disease (basal ganglia and brainstem involvement) or fragile X-associated tremor/ataxia syndrome (pontocerebellar hypoplasia or cerebral white matter involvement).