RT Journal Article
SR Electronic
T1 Proton MR Spectroscopy and Imaging of a Galactosemic Patient before and after Dietary Treatment
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 204
OP 207
VO 27
IS 1
A1 Otaduy, M.C.G.
A1 Leite, C.C.
A1 Lacerda, M.T.C.
A1 Costa, M.O.R.
A1 Arita, F.
A1 Prado, E.
A1 Rosemberg, S.
YR 2006
UL http://www.ajnr.org/content/27/1/204.abstract
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.