INTRODUCTION Wilson disease is rarely reported among African children. This report describes the second case report of a Nigerian child with Wilson disease in three decades. CASE PRESENTATION An eight-year-old African boy presented with generalized oedema and ascites and proteinuria. Over the next three weeks he developed conjugated hyperbilirubinaemia, severe coagulopathy and prominent extra...

The focus of this minireview is on the current status and new advances in diagnosis and treatment of Wilson disease, an autosomal recessive disorder of copper metabolism. Molecular diagnostics have improved and complements current biochemical and clinical methods for screening for Wilson disease. Screening for Wilson disease in newborns is feasible and has been tested in limited populations, bu...

BACKGROUND & AIMS Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Alterations of copper metabolism have been associated with changes in coagulation factors. The aim of the present study was the analysis of coagulation factors in WD patients. METHODS 100 patients attending a tertiary WD outpatient clinic were analyzed in a prospective cross sectional cohort study. ...

Computed tomography (CT) was performed on 25 patients with Wilson disease (hepatolenticular degeneration). The diagnosis was confirmed biochemically. CT was normal in seven patients, five of whom presented clinically with the hepatic form of the disease. In 10 patients, CT abnormalities were graded as mild: there were atrophic changes around the basal ganglia and in the cortex and cerebellum. I...

BACKGROUND In Wilson disease, copper is not sufficiently excreted into bile due to the absence or malfunction of the Wilson protein copper ATPase in the excretory pathway of hepatocytes. Copper is found in sweat. It is unknown if the Wilson protein plays a role in copper excretion into sweat. It is the aim of this study to investigate Wilson protein expression in sweat glands and analysing its ...