Wilson's disease in Eastern India.
Artigo
em Inglês
| IMSEAR
| ID: sea-85329
ABSTRACT
INTRODUCTION:
Wilson's disease is an inherited autosomal recessive (AR) disorder of copper metabolism transmitted by a mutant gene on chromosome 13q14-21 and results in abnormal accumulation of copper giving rise to protean manifestations.AIM:
The aim is to study the clinical features, biochemical and radiological abnormalities of this disorder in Eastern India and the effect of treatment.RESULTS:
Forty nine (n = 49) cases were studied over a period of 10 years. Majority of patients were male with mean age of onset being 11.13 years. They commonly presented with dysarthria, dystonia or drooling. The clinical features were dystonia (96%), silly smile (92%), dysarthria (80%), cognitive decline (71%), tremors (47%), bradykinesia (45%), etc. Family history suggested an autosomal recessive pattern. Sibling screening revealed that 4/8 (50%) were presymptomatic. All but one had presence of Keyser Fleischer (KF) ring in their cornea. Serum copper was reduced in 77% while ceruloplasmin was less in 94% of cases. The commonest abnormality seen in CT/MRI were in basal ganglia (74%) followed by white matter changes (59%) and brain stem changes (20.5%). The response to treatment was not as good and there was an initial deterioration in 50% of cases. Only five patients could go back to their school.CONCLUSION:
Wilson's disease have protean manifestations. All children with slowly progressive extrapyramidal syndrome should be investigated for it. Screening of all asymptomatic siblings for Wilson's disease must be carried out. Early institution of proper treatment and life long continuation is indicated in all. In the present series, an earlier age of onset of neurological signs and symptoms were seen; there was initial deterioration in 50% of cases and the response to treatment was not as good.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Penicilamina
/
Prognóstico
/
Índice de Gravidade de Doença
/
Feminino
/
Humanos
/
Masculino
/
Criança
/
Incidência
/
Estudos Retrospectivos
/
Fatores de Risco
Tipo de estudo:
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
País/Região como assunto:
Ásia
Idioma:
Inglês
Ano de publicação:
2001
Tipo de documento:
Artigo
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