RATIONALE Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, and gene mutations were analyzed in detail. PATIENT CONCERNS The patient was a 17-year-old and 136-c...

BACKGROUND/AIMS A low serum ceruloplasmin level is considered a diagnostic test for Wilson's disease. To examine whether it is useful to detect presymptomatic patients with Wilson's disease, serum ceruloplasmin was determined by radial immunodiffusion (normal: 20-60 mg/dl) in all patients (n = 2867) admitted for evaluation of a liver disease in 1993 and 1994. METHODS Patients with levels lowe...

BACKGROUND Wilson's disease (WD) is a genetic disorder involving the metabolism of copper. WD patients exhibit a wide range of disease phenotypes, including Kayser-Fleischer rings in the cornea, predominant progressive hepatic disease, neurological diseases, and/or psychiatric illnesses, among others. Patients with exon12 mutations of the ATP7B gene have progressive hepatic disease. An ATP7B ge...

UNLABELLED Wilsons disease, characterized by cirrhosis, extrapyramidal symptoms and Kayser-Fleischer corneal rings, is a rare hereditary disease of human copper metabolism. Clinical findings in Wilsons disease are complex and neurological symptoms such as tremor, dysarthria, rigid dystonia, seizures, psychiatric disorders, acute liver failure, chronic hepatitis or cirrhosis may develop. A 4-yea...

Wilson's disease, an autosomal recessive disorder of copper metabolism, is the most common inherited hepatic disease in Hong Kong. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration (<0.20 g/L). Early detection and treatment protect patients and their presymptomatic siblings from devastating organ damage. T...

CONGENITAL hepatic fibrosis is an uncommon cause of portal hypertension and usually presents as alimentary bleeding in childhood or adolescence. The occurrence in more than one member of a family has been described (Kerr et al., 1961; Campbell et al., 1958). This report concerns four members of one family who have presented with clinical features attributable to congenital hepatic fibrosis. Pat...

Purpose: To report a case of asymptomatic Wilson’s disease (WD) in which the identification of a Kayser-Fleischer (K-F) ring and its characterization by confocal biomicroscopy led to the diagnosis. Methods: Case report. Results: Confocal biomicroscopy showed clustered, highly reflective, and round foci in Descemet’s membrane, which we believed to be depositions of copper in this patient with as...