Wilson's Disease

Longe, Ade C.; Glew, Robert H.; Omene, J. A.

doi:10.1001/archneur.1982.00510140063018

Cited by 9 publications

(1 citation statement)

References 5 publications

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“…The reported prevalence is 30 per million people [1]. However, apart from a report three decades ago, WD has not been described in children in Nigeria [2]. In this report we describe another Nigerian child with WD and highlight that, though uncommonly diagnosed in African children, WD should also be considered in the differential diagnosis of a clinical presentation of liver disease and/or extrapyramidal manifestation in children in Africa.…”

Section: Introductionmentioning

confidence: 76%

Wilson disease in a Nigerian child: a case report

et al. 2012

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IntroductionWilson 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 presentationAn 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 8th International Meeting of Wilson Disease and Menkes Disease, a diagnosis of Wilson disease was made.ConclusionsWilson 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.

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Section: Introductionmentioning

confidence: 76%

Wilson disease in a Nigerian child: a case report

et al. 2012

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Wilson's Disease

Dening

Berríos²

1989

Arch Gen Psychiatry

208

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The Prevalence of Wilson’s Disease: An Update

et al. 2020

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Background and Aims In 1984, Scheinberg and Sternlieb estimated the prevalence of Wilson’s disease to be 1:30,000 based on the limited available data. This suggested a large number of overlooked cases with potentially fatal consequences. The “Scheinberg‐Sternlieb Estimate” is still widely used, although more recent clinical and genetic studies of higher quality are now available. In the present study, we included these data to update the prevalence estimate. Approach and Results A MEDLINE Ovid, Science Citation Index Expanded, and PubMed systematic search for all relevant studies on the prevalence of Wilson’s disease was conducted. In total, 59 studies (50 clinical and 9 population‐based genetic) were included in the final analysis. We identified 4 recent clinical studies based on nationwide databases of high quality, providing prevalence estimates from 1:29,000 to 1:40,000. Higher frequency populations do exist because of frequent first‐cousin marriages and/or a higher mutation frequency. When calculating prevalence from the incidence related to number of births, estimates were 1:40,000‐1:50,000. Clinical screening studies, including examination for Kayser‐Fleischer rings or ceruloplasmin, did not improve these estimates because of insufficient sample size or selection biases. Population‐based genetic studies in US and UK populations were not in disagreement with the clinically based estimates. At the same time, studies from France and Sardinia suggested that the genetic prevalence may be 3‐4 times higher than the clinical disease prevalence. This raises the question whether the penetrance is indeed 100% as generally assumed. Conclusions The original prevalence estimate from 1984 of 1:30,000‐1:50,000 still appears valid, at least for the United States, Europe, and Asia. In some population‐based studies, the genetic prevalence was 3‐4 times higher than clinically based estimates. The question of penetrance needs further evaluation.

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Wilson's Disease

Cited by 9 publications

References 5 publications

Wilson disease in a Nigerian child: a case report

Wilson disease in a Nigerian child: a case report

Wilson's Disease

The Prevalence of Wilson’s Disease: An Update

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