Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis.
OBJECTIVE
The diagnosis of this condition in the absence of any neurological findings may pose a dilemma. In 2001, experts from The 8th International Conference on Wilson disease (WD) and Menkes disease in Leipzig, Germany proposed a scoring system that may facilitate diagnosis of WD.


RESULTS
Three patients were identified as having an atypical presentation of WD as they all presented after the age 40. Two of the three presented with established cirrhosis, and none had any neuropsychiatric manifestations. All three patients fulfilled the Leipzig diagnostic criteria proposed by EASL prior to confirmatory mutation analysis. Patient A died of liver failure despite treatment. Patients B and C have remained with stable liver disease on chelation therapy.


CONCLUSIONS
We believe these patients represent a group most likely to be missed in the diagnostic work-up of liver disease due to a combination of atypical features such as older age of onset, presence of other confounders for liver disease, and sometimes absence of Kayser-Fleischer rings. The Leipzig scoring system proposed in 2003 was helpful in support of an initial diagnosis of Wilson disease in these patients, validated later by genetic testing.
Xuan
Andy
A
Department of Medicine, McMaster University, Hamilton, ON, Canada L8N 3Z5. andy.zuan@utoronto.ca
Bookman
Ian
I
Cox
Diane W
DW
Heathcote
Jenny
J
D017668:Age of Onset; D002614:Chelating Agents / Q000627:therapeutic use; D003300:Copper / Q000378:metabolism; D003938:Diagnostic Techniques, Digestive System / Q000592:standards; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000175:diagnosis* / Q000503:physiopathology / Q000523:psychology; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology*; D008107:Liver Diseases / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism; D017093:Liver Failure / Q000209:etiology / Q000401:mortality; D008603:Mental Health; D008875:Middle Aged; D009420:Nervous System / Q000503:physiopathology
D002614:Chelating Agents; D003300:Copper