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
 Present2
 Absent0

Neurologic symptoms (or typical brain MRI)
 Severe2
 Mild1
 Absent0

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

Coomb’s negative hemolytic anemia
 Present1
 Absent0

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)
 Normal0
 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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