RESUMO

In a newborn infant with galactose-1-phosphate uridyltransferase deficiency and encephalopathy, brain magnetic resonance imaging revealed cytotoxic edema in white matter. Using in vivo proton magnetic resonance spectroscopy, we detected approximately 8 mmol galactitol per kilogram of brain tissue, an amount potentially relevant to the pathogenesis of brain edema.

Assuntos

Encefalopatias Metabólicas Congênitas/metabolismo , Encéfalo/metabolismo , Galactitol/farmacocinética , Galactosemias/metabolismo , Humanos , Recém-Nascido , Espectroscopia de Ressonância Magnética , Masculino