Importance We sought to illustrate improvement of cerebral white matter changes in metachromatic leukodystrophy after treatment with hematopoietic stem cell transplant (HSCT).
Observations We conducted serial magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H-MRS) as standard follow-up after HSCT with cord blood in 1 patient with juvenile metachromatic leukodystrophy diagnosed before frank degenerative symptoms developed. We measured MRI and 1H-MRS changes. The white matter changes first increased after HSCT, then decreased in relation to the pre-HSCT MRI and 1H-MRS.
Conclusions and Relevance Hematopoietic stem cell transplant, if performed early in metachromatic leukodystrophy, can not only stabilize but even improve cerebral white matter abnormalities. Our findings suggest a biological effect of HSCT.
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Figure. Magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H-MRS) before and 6, 18, and 27 months after hematopoietic stem cell transplant (HSCT). A-C, Transverse T2-weighted MRI of the brain at 1.5 T (repetition/echo times, 2450/85 ms) before HSCT. Symmetrical periventricular and deep white matter hyperintensities are noted, especially in the frontal regions on both sides, with abnormal signal intensity in the genu of the corpus callosum. Temporal periventricular abnormalities are seen. D-F, Follow-up T2-weighted MRI 6 months after HSCT shows progression of white matter abnormalities, especially in the parietal regions, with ventricular widening. G-I, Follow-up MRI 18 months after HSCT shows significant improvement of the white matter abnormalities, especially in the centrum semiovale in both hemispheres. The temporal periventricular white matter has normalized. J-L, Follow-up MRI 27 months after HSCT shows stable signal abnormalities. M-U, Proton MRS scans were obtained with chemical shift imaging (CSI) (point-resolved spectroscopy sequence; repetition/echo times, 3000/30 ms) just above the corpus callosum. The color maps corresponding to the volume of interest indicated in white on the MRI obtained at the same time represent the concentration ratios of choline-containing compounds to N -acetylaspartate (Cho:NAA) and myo -inositol to NAA (Ins:NAA), as quantified with LCModel (http://s-provencher.com/pages/lcmodel.shtml), which are sensitive markers for disease stage. (For comparison, the mean Cho:NAA and Ins:NAA ratios in normal white matter of adolescents are 0.19 [SD, 0.02] and 0.39 [0.05], respectively). Original spectra data are localized in the yellow square on the MRI obtained at the same time. M-O, Proton MRS obtained before HSCT. P-R, Follow-up 1H-MRS 18 months after HSCT. S-U, Follow-up 1H-MRS 27 months after HSCT. At 6 months after transplant, the patient had moved during the examination, making it impossible to compare the CSI results. Cr indicates creatine.
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