Wilson's Disease in Bangladeshi Children: Analysis of 100 Cases

Abstract

PurposeTo evaluate clinical and laboratory profile of Wilson's disease (WD) in children.MethodsThis cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University Hospital. Bangladesh, over a period of 3 years. One hundred consecutive children of WD between 3 to 18 years of age were evaluated.ResultsMean age was 8.5±1.5 years. Male female ratio was 2:1. Ninety-one percent of patients were Muslim and 9% Hindu. A total of 53% cases of hepatic WD presented between 5 to 10 years of age and most of the neurologic WD manifested in 10-15 years age group. Sixty-nine children presented only with hepatic manifestations, 6 only with neurological manifestations, 14 with both hepatic and neurological manifestation, 10 children was asymptomatic and 1 patient presented with psychiatric features. WD presented as chronic liver disease (CLD) in 42%, CLD with portal hypertension in 34%, acute hepatitis in 20% and fulminant hepatic failure in 4% cases. Stigmata of CLD were found in 18% patients. Keiser-Fleischser ring was found in 76% total patients. Elevated serum transaminase was found in 85% cases, prolonged prothrombin time in 59% cases and hypoalbuminaemia in 53% cases. A total of 73% patients had low serum ceruloplasmin, basal urinary copper of >100 µg/day was found in 81% cases and urinary copper following penicillamine challenge of >1,200 µg/day was found in 92% cases.ConclusionMajority of studied WD children presented with hepatic manifestation of which 76% presented with CLD. Any child presented with jaundice after the age of 3 years should be investigated for WD.

Neurological features and management of Wilson disease in children: an evaluation of 12 cases

“…Observation of KF ring more frequently in patients with neurological findings may be related with the fact that neurological findings emerge at more advanced ages. In previous studies, the frequency of KF ring in children with WD was reported to range between 38% and 76% (7,12). KF ring was found in 50% of the patients included in this study.…”

“…Although patients generally present with clinical findings related with hepatic dysfunction, patients without a diagnosis of WD who had presented only with neurological findings have been reported (7). In this study, three (25%) of our patients presented to our clinic with neurological findings and were diagnosed with WD as a result of systemic investigations.…”

“…The age of onset of neurological symptoms is frequently older compared to the age of onset of hepatic involvement. Although the diagnosis of WD is made in the first decade of life in children, the neurological symptoms of WD are mostly observed in the second decade (7,8). In this study, the mean age at the time of diagnosis in our patients was 9.9 years and the mean age at the time of onset of neurological findings was 12.7 years which were compatible with the previous studies.…”

Wilson's Disease Presenting as Parkinsonism

“…Although the diagnosis of WD is made in the first decade of life in children, the neurological symptoms of WD are mostly observed in second decade [6,7] .…”

How to use tests for disorders of copper metabolism

“…In an analysis of 100 cases of WD in children, there were 69 children with hepatic presentation only, 14 children with both hepatic/neurological presentation, 11 asymptomatic children (diagnosed on family screening) and 6 children with neurological presentation only (5 children >10 years old) 13. However, looking specifically at children with neurological presentation of WD only, two different case series reports from Pakistan and Italy demonstrated 46/50 children and 2/6 children, respectively, with normal transaminases at presentation 4 14.…”