Wilson disease in a Nigerian child: A case report

Abstract

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 extrapyramidal features consisting of rigidity, tremors at rest and in action, shuffling gait, slurred speech and emotional lability. Slit-lamp examination of his eyes revealed Kayser-Fleischer rings and sunflower cataracts. His serum caeruloplasmin level was 5mg/dL. Using the scoring system proposed by the 8 th International Meeting of Wilson Disease and Menkes Disease, a diagnosis of Wilson disease was made. Conclusions: Wilson disease does occur in African children, although the diagnosis is rarely made. A diagnosis of Wilson disease should be entertained in the evaluation of African children presenting with liver dysfunction and/or extrapyramidal neurological features. © 2012 Esezobor et al.; licensee BioMed Central Ltd.