Maria Rocha Costa

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We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications, and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded additional information on the disease. Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features(More)
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(More)
Abbreviations: ADC ϭ apparent diffusion coefficient Cho ϭ choline-containing compounds CMD ϭ congenital muscular dystrophy Cr ϭ creatine/phosphocreatine FWM ϭ frontal WM mI ϭ myo-inositol NAA ϭ N-acetylaspartate POWM ϭ parieto-occipital WM WM ϭ white matter Authors stated no financial relationship to disclose. 1 PURPOSE: To prospectively use hydrogen 1 (1(More)
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