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Their Use in the Diagnosis of Presymptomatic Wilson's Disease

Alfred E. Stillman, MD; L. Ralph Rohr, MD

Am J Dis Child. 1982;136(3):242-244.

Abstract
• A 4-year-old asymptomatic girl with persistent elevated serum transaminase levels for eight months was found to have Wilson's disease. The diagnosis was suspected by the presence of fatty liver and nonspecific chronic hepatitis on liver biopsy and was proved by studies of copper metabolism, including determinations of serum ceruloplasmin and hepatic copper concentrations. Unexplained persistent transaminase elevations in children demand investigation by needle liver biopsy. The presence of fatty liver and hepatitis should raise the possibility of Wilson's disease, which may then be confirmed by more specific tests. Advantages to early diagnosis include the institution of specific therapy and prevention of progressive liver disease.

(Am J Dis Child 1982;136:242-244)

Author Affiliations
From the Departments of Gastroenterology (Dr Stillman) and Pathology (Dr Rohr), Tucson (Ariz) Hospitals Medical Education Program, Tucson Medical Center, and the University of Arizona College of Medicine.

Footnotes
Reprint requests to 5200 E Grant Rd, Suite 611, Tucson, AZ 85712 (Dr Stillman).

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