Topics Discussed: gastroenterology and hepatology; hepatolenticular degeneration; kayser-fleischer ring.
Sections: Differential Diagnosis, Diagnosis, Treatment, References.
Excerpt:"One of the challenges of diagnosing Wilson's disease
is the wide spectrum of clinical presentations. Wilson's
patients with hepatic symptoms could present with anything from
isolated asymptomatic elevated transaminase levels to liver failure.
Wilson's patients with a neurologic presentation can experience
symptoms ranging from declining school performance to frank psychosis
(Table 25–1). The youngest patient ever reported to present
with liver involvement due to Wilson's disease was 3 years
old; therefore, this disorder is not usually considered on the differential
of neonatal or infantile liver disease.19 The most common
clinical presentation for Wilson's disease is a hepatic
presentation between 10 and 20 years of age (40–60%).
The second most common presentation is with primarily neurologic
(34%) or psychiatric (10%) symptoms between the
ages of 20–40 years2,20 (Figure 25–2).
Occasionally, Wilson's patients are diagnosed based on
the finding of hemolytic anemia...."
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