PT - JOURNAL ARTICLE AU - Otaduy, M.C.G. AU - Leite, C.C. AU - Lacerda, M.T.C. AU - Costa, M.O.R. AU - Arita, F. AU - Prado, E. AU - Rosemberg, S. TI - Proton MR Spectroscopy and Imaging of a Galactosemic Patient before and after Dietary Treatment DP - 2006 Jan 01 TA - American Journal of Neuroradiology PG - 204--207 VI - 27 IP - 1 4099 - http://www.ajnr.org/content/27/1/204.short 4100 - http://www.ajnr.org/content/27/1/204.full SO - Am. J. Neuroradiol.2006 Jan 01; 27 AB - SUMMARY: We describe how proton MR spectroscopy (1H-MR spectroscopy) was useful in elucidating the diagnosis of galactosemia in an undiagnosed 6-month-old infant. In vivo 1H-MR spectroscopy of the brain showed a doublet at 3.7 parts per million, which was identified as galactitol (Gal-ol) by in vitro 1H-MR spectroscopy of the urine. Galactosemia was subsequently confirmed by laboratory tests and treatment was initiated. A follow-up brain MR imaging and 1H-MR spectroscopy study revealed resolution of white matter lesions and disappearance of Gal-ol peaks.