In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.
case_report · Level V
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Abstract
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.
Medical subject headings
- Brain
- Brain Diseases, Metabolic, Inborn
- Galactitol
- Galactosemias