In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy

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 similar to8 mmol galactitol per kilogram of brain tissue, an amount potentially relevant to the pathogenesis of brain edema.