Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis.

Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis. Research Abstract Details 

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Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis. Abstract Text:

Andy Xuan,Ian Bookman,Diane W Cox,Jenny Heathcote,

BACKGROUND/AIMS: 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. METHODS/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.

Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis. Publishing Authors By Initials

A Xuan,I Bookman,DW Cox,J Heathcote,

For similar nervous system research abstracts see: nervous system research

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Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Journal of hepatology

VOLUME: 47

Page Numbers: 428-33

Journal Abbreviation: J. Hepatol.

ISSN: 0168-8278

DAY: 25

MONTH: 06

YEAR: 2007

Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis. Information

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LANGUAGE: eng

NlmUniqueID: 8503886

Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis. Keywords Mesh Terms:

KEYWORDS: Nervous System

MESH TERMS: physiopathology

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Substance Name: Copper

Registry Number: 7440-50-8

Grant and Affiliation Information for Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis.

AFFILIATION: Department of Medicine, McMaster University, Hamilton, ON, Canada L8N 3Z5. andy.zuan@utoronto.ca

Country: England

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MEDLINETA: J Hepatol

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