Abstract
Wilson disease is a rare monogenic, autosomal recessive disorder of copper metabolism, leading to progressive accumulation of copper in different organs, essentially in the liver, brain and cornea. We report a case of a 25 years old man, Caucasian, with “wing-beating tremor” in the right arm that started with two month in advance of hospital admission, than evolved to the left arm, a week before hospitalization. The slit-lamp examination showed the presence of Kayser-Fleischer rings in both eyes. The laboratory tests and brain MRI confirmed the diagnostic of Wilson’s disease.
Highlights
Wilson disease is a rare monogenic, autosomal recessive disorder of copper metabolism, leading to progressive accumulation of copper in different organs, essentially in the liver, brain and cornea
The patient started the treatment with Penicillamine at dose of 250 mg/ day
Screening diagnostic: low ceruloplasmin level; high 24-h urine cooper test; low level of serum copper; slit-lamp examination for Kayser-Fleischer rings; brain MRI: high T2/FLAIR signal in the basal ganglia, thalamus, brain stem and white matter (6)
Summary
Wilson disease is a rare monogenic, autosomal recessive disorder of copper metabolism, leading to progressive accumulation of copper in different organs, essentially in the liver, brain and cornea. The disease progresses very slowly, the patient being presymptomatic. Most patients start to have hepatic, neurologic and psychiatric manifestations between ages of 11 and 25 years (1), but the disease should be considered in any person between the age of 3 and 55 years with these signs and symptoms (2). Prevalence is 1: 30,000 with a heterozygote carrier frequency of 1 in 100 persons (3)
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