Wilson's disease in Egyptian children: a single center 10-year experience

ABSTRACT

Wilson's disease [WD] is a multisystem disease with variable presentations. The aim of this work is to illustrate the diverse patterns of presentation of WD in Egypt. To the best of our knowledge, this is the first report regarding the clinical presentation of WD in Egypt. The study included all patients of WD presented to Pediatric Hepatology Unit Cairo University Children's Hospital within a period of ten years [1996-2005]. Analysis of date included thorough history, clinical examination, laboratory findings and treatment. Nine cases presented with hepatic manifestations [64.29%]; 2 with acute fulminant hepatitis and 7 with chronic hepatitis. Two cases presented with neurological manifestations [14.29%]. Three cases [21.4%] were presymptomatic siblings of patients with WD. The age range was 5 to 15 years. Eight patients [57.14%] had Kayser Fleischer ring [KF ring], but none had cataract. All patients had low serum ceruloplasmin level. Ten patients [71.42%] had high basal urinary copper in 24 hours and all had markedly elevated urinary copper in 24 hours after penicillamine [penicillamine challenge test]. The diagnosis of WD can be made provided that it is suspected in any patient presenting with obscure hepatic or neurological manifestations. Moreover, screening of asymptomatic relatives is a key point as 21.4% of our cases were presymptomatic relatives. Whether the predominance of hepatic presentation in our patients, was a real predominant pattern of presentation in Egypt or was due to center, awaits further studies