A 16 yr. old male has a history of jaundice since the age of 7years. He presents with a chronic progressive course of clumsiness, falling, writing difficulties, intention tremor, flexor spasms, difficulty with speech and swallowing, and ataxia with normal sensation.
He is well known to the neurologist who has diagnosed the patient’s condition a few years ago following blood and urine tests. This boy is likely to be on the following treatment:
a) Zinc suplements b) Glucocorticoid supplements c) Penicillamine medication d) anti-cholesterol medication e) He is unlikely to be on any specific medication since there is no effective treatment for this disorder
Correct Answer: C
Explanation:
The features of this case suggest a chronic, slowly progressive course which suggests a metabolic process causing degeneration.
Wilson's Disease is the most likely diagnosis though other possibilities may include Degenerative process e.g. ALS, Biochemical dysfunction e.g. Hunnington's Disease and Infection e.g. TB
Management of patients with Wilson's disease (symptomatic and asymptomatic patients) centers around removing the Copper deposits from the organs. The drug of choice is the chelating agent, penicillamine. Penicillamine chelates the Cu, forming stable, soluble complexes that can be excreted in the urine. Patients should also receive pyridoxine because penicillamine has an antipyridoxine effect. In addition, patients should be advised to minimize intake of foods that are rich in Cu such as shellfish, chocolate, mushrooms, and nuts. Treatment is lifelong.
In the diagnosis of Wilson's disease note that :
Serum Ceruloplasmin level would show low levels (less than 200 mg/L). Slit lamp examination would show Kayser-Fleischer rings (golden or greenish golden rings d/t Cu deposits in the Descemets membrane of cornea).
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