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Published on: December 15, 2011
Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment
M C G Otaduy1, C C Leite, M T C Lacerda
1Department of Radiology, School of Medicine of the University of São Paulo, São Paulo, Brazil.
Abstract:
We describe how proton MR spectroscopy ((1)H-MR spectroscopy) was useful in elucidating the diagnosis of galactosemia in an undiagnosed 6-month-old infant. In vivo (1)H-MR spectroscopy of the brain showed a doublet at 3.7 parts per million, which was identified as galactitol (Gal-ol) by in vitro (1)H-MR spectroscopy of the urine. Galactosemia was subsequently confirmed by laboratory tests and treatment was initiated. A follow-up brain MR imaging and (1)H-MR spectroscopy study revealed resolution of white matter lesions and disappearance of Gal-ol peaks.
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