Case Reports in Medicine / 2020 / Article / Tab 2

Case Report

Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters

Table 2

Diagnostic scoring system for Wilson’s disease proposed by “8th International Meeting on Wilson Disease and Menkes Disease, Leipzig (2001).”

Kayser–Fleischer rings

Neurologic symptoms (or typical brain MRI)

Serum ceruloplasmin
 Normal (>20 mg/dl)0
 10–20 mg/dl1
 <10 mg/dl2

Coomb’s negative hemolytic anemia

Liver copper (in absence of cholestasis)
 >250 μg/g2
 50–250 μg/g1
 Normal (<50 μg/g)0

Urinary copper (in absence of acute hepatitis)
 1-2 × ULN1
 >2 × ULN2
 Normal, but >5 × ULN after penicillamine2

Mutation analysis
 Two chromosome mutations4
 One chromosome mutation1
 No chromosomes detected0

Total scoreEvaluation
4 or moreDiagnosis established
3Diagnosis possible, more tests needed
2 or lessDiagnosis very unlikely

Note: ULN, upper limit of normal.

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