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Wilson disease may come to light in an individual in a variety of different ways. Indeed, one of the mysteries of this condition is that the same genetic abnormality can produce such different clinical problems in different people.
ACTION POINT
If "routine liver function tests" are inexplicably abnormal in a child, test for Wilson disease
ACTION POINT
In a child with haemolysis and negative Coombs test, remember to exclude Wilson disease
The liver manifestations of Wilson disease may be of almost any variety and severity. The important practical message therefore is: suspect Wilson disease in any child with undiagnosed liver disease. Presentations include:
CLUES suggesting Wilson disease in a child with fulminant liver failure are:
The neurological manifestations of Wilson disease generally present between the ages of 10 and 35 years; however a patient presenting at 55 years has been published. The neurological manifestations are diverse and may present as movement disorders which can be quite difficult to differentiate from other neurological disorders. They include:
These three syndromes often occur in the same patient or develop as the disease progresses. Experience in 188 patients (Czlonkowska unpublished data) suggests that the most frequent symptoms are:
CLUES suggesting Wilson disease are:
Psychiatric disorders are quite variable. Depression is common. Neurotic behavior includes phobias, compulsive behaviors, aggression, or anti-social behavior. Cognitive deterioration may also occur with worsening school performance, poor memory, difficulty in abstract thinking, and shortened attention span. Pure psychotic disorders are uncommon.
ACTION POINT
Parents' concerns about changes in mood or school performance in a teenager, especially with speech slurring, must be taken seriously. Wilson disease is a rare but possible cause.
Usually, the ophthalmologist is asked to look for eye abnormalities in a patientalready suspected of having Wilson disease. Occasionally the optometrist or ophthalmologist may be the first to suspect Wilson disease because of findingthe characteristic eye abnormalities
The Kayser-Fleischer ring is a gold or gray-brown opacity in the peripheral cornea. It first develops superiorly in the cornea (12 o'clock), then inferiorly,and finally in the horizontal meridian. It represents a deposit of copper and sulfur-rich granules in Descemet's membrane, and is reversible with treatment.Additional later ocular findings in Wilson disease include sunflower cataracts,saccadic pursuit movements, loss of accommodation response, and apraxia of opening the eyelid.
They are very occasionally the first signs of Wilson disease.