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Literature DB >> 16418384

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, M O R Costa, F Arita, E Prado, S Rosemberg.

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.

Entities: Chemical Disease Species

Mesh：

Substances：
Galactitol

Year: 2006 PMID： 16418384 PMCID： PMC7976095

Source DB: PubMed Journal: AJNR Am J Neuroradiol ISSN： 0195-6108 Impact factor: 3.825

11 in total

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12 in total

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Journal: AJNR Am J Neuroradiol Date: 2021-01-21 Impact factor: 3.825