[Wilson's disease: a review apropos of a clinical experience in 16 patients]. / Enfermedad de Wilson: una revisión a propósito de experiencia clínica en 16 pacientes.
Rev Med Chil
; 123(9): 1098-107, 1995 Sep.
Article
em Es
| MEDLINE
| ID: mdl-8728733
ABSTRACT
Wilson's Disease is an inherited disorder of copper metabolism. We report 16 patients (6 males) with the disease; 6 had hepatic involvement exclusively, 4 had neurological involvement, 3 had a neurological and hepatic involvement and 3 were asymptomatic. The age onset was 9 years for hepatic and 17 years for neurologic involvement. The mean delay in diagnosis was 14 months. Chronic hepatitis, cirrhosis and fulminant hepatic failure were the clinical forms of liver disease. Patients with neurologic disorders had behavioral disturbances and extrapyramidal manifestations such as dystonia and parkinsonism. Patients had a good response to penicillamine, except 3 that died of liver complications, in whom the treatment was delayed or discontinued. We conclude that this metabolic disease must be suspected in pubertal children and in adults of less than 30 years old with liver disease of unknown origin or behavioral alterations associated to an extrapyramidal syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso Central
/
Degeneração Hepatolenticular
/
Hepatopatias
Tipo de estudo:
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
Es
Revista:
Rev Med Chil
Ano de publicação:
1995
Tipo de documento:
Article