RESUMO
A 3-year-old girl presented with hemolytic anemia, hepatosplenomegaly, ascites, and evidence of decompensated chronic liver disease. Genotypic DNA analysis revealed that the patient was homozygous for a splice site mutation now designated IVS4-1:G>C, expected to destroy completely the functional gene product of ATP7B, the gene responsible for Wilson's disease. We suggest that this severe mutation caused very early liver disease. Wilson's disease should be considered in the differential diagnosis of established liver disease in the preschool-aged child.
Assuntos
Adenosina Trifosfatases/genética , Proteínas de Transporte/genética , Proteínas de Transporte de Cátions , Degeneração Hepatolenticular/diagnóstico , Criança , Pré-Escolar , ATPases Transportadoras de Cobre , Diagnóstico Diferencial , Feminino , Degeneração Hepatolenticular/genética , Humanos , MutaçãoRESUMO
Pemoline hepatotoxicity ranges from asymptomatic elevations in levels of serum aminotransferases to fulminant liver failure. We report five cases of pemoline hepatotoxicity in children (four boys, one girl), including the only reported case resulting in orthotopic liver transplantation. We conclude that pemoline causes toxic liver damage in children. The severity of the damage is highly variable, and its onset may be late in the course of treatment. Pemoline and methylphenidate may act synergistically to cause liver damage. The levels of serum aminotransferases should be monitored throughout treatment with these agents.
Assuntos
Estimulantes do Sistema Nervoso Central/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/enzimologia , Pemolina/efeitos adversos , Adolescente , Fosfatase Alcalina/metabolismo , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Criança , Feminino , Humanos , Masculino , Transaminases/metabolismoRESUMO
We report the cases of neonatal lupus erythematosus associated with significant hepatic involvement in three living infants and in one infant who died 3 hours after delivery. The three living infants had neonatal cholestasis as a major component of their clinical findings. Pathologic changes included giant cell transformation, ductal obstruction, and extramedullary hematopoiesis. Liver involvement has been noted incidentally in children with neonatal lupus erythematosus, but it has generally been attributed to hemodynamic compromise as a result of congenital heart block or systemic toxic reactions. We speculate that neonatal hepatitis proceeding to hepatic fibrosis may occur in neonatal lupus erythematosus, analogous to the occurrence of "idiopathic" congenital heart block. The neonatal hepatitis associated with neonatal lupus erythematosus is a form distinguishable from the "idiopathic" group. Liver involvement may be more common than was previously recognized, and prospective studies to look for maternal autoantibodies in idiopathic neonatal liver disease should be undertaken.