Wilson’s disease in children: Recent update on pathophysiology and management

Table 2 The modified Leipzig scoring system

Scoring items	Score
KF rings
Present	2
Absent	0
Serum ceruloplasmin
Normal > 20 (mg/dL)	0
0 to 5 (mg/dL)	3
6 to 11 (mg/dL)	2
11 to 20 (mg/dL)	1
24 hours urinary copper
> 100 (μg)	2
40-100 (μg)	1
< 40 (μg)	0
Coomb’s-negative hemolytic anemia with liver disease
Present	1
Absent	0
Mutational analysis
On both chromosomes	4
On one chromosome detected	1
No mutation detected/test not done	0
Liver biopsy for histology suggestive of WD
Orcein or rhodamine negative granules	0
Orcein or rhodamine positive granules	1
Neurobehavioral symptom
Present	2
Absent	0
Typical features on MRI brain
Present	1
Absent	0
History of WD in a family member/sibling death from liver disease/neurological disease
Suggestive of WD	1
Absent	0

Interpretation of the score: Score 4 or more: Confirmed Wilson disease, score 3: Diagnosis possible, score 2 or less: Unlikely (the score is taken from Wilson’s disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India). WD: Wilson’s disease; MRI: Magnetic resonance imaging; KF: Kayser-Fleischer.