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. 2013 Feb 11;39:10. doi: 10.1186/1824-7288-39-10

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Copyright ©2013 Parisi et al.; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Neuroradiological and clinical evaluation performed at admission in the child and his father. MRS positioned on the brainstem and subcortical cerebellar white matter on the basis of FLAIR signal alteration images (A); presence of numerous cafe´ au lait patches in the child (B); MRS documented increased Cho/Cr resonance intensities in the voxels located inside and at the border of the MRI signal alterations in the brainstem (inside mean value Cho/Cr: 2.43; at the border Cho/Cr: 1.70 (C, D), in normal appearing white matter between the cerebellar hemispheres (right side Cho/Cr: 2.06 (E) (left side Cho/Cr: 0.80 (F). MRSI voxels at the level of focal cerebellar lesion documented Cho/Cr: 1.29 (G). Nor brain lesions neither metabolic changes in the father’s MRS (H).