RESUMO
Wilson disease is an inborn error of copper metabolism that has neurological and hepatic manifestations. We report a 13 years old girl and a 12 years old boy with Wilson disease. In both patient, brain computed tomography and magnetic resonance imaging showed marked involvement of basal ganglia and other deep gray nuclei. Considering that this is a treatable disease, it should be included in the differential diagnosis of the so called "striatal necrosis of childhood".
Assuntos
Degeneração Hepatolenticular/diagnóstico , Adolescente , Criança , Feminino , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/tratamento farmacológico , Humanos , Masculino , Doenças do Sistema Nervoso/etiologia , Penicilamina/uso terapêutico , Tomografia Computadorizada por Raios X , Vitamina K/uso terapêuticoRESUMO
We report a 20-year-old woman with continuous abnormal muscle activity syndrome in which pharmacological blockade of different sites of the motor unit demonstrates a peripheral nerve origin for the abnormal muscle activity. The case showed no markers of autoimmune disease. A rapid recovery after high dose i.v. methylprednisolone was observed supporting the hypothesis of an autoimmune pathogenesis.