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Neuroregression, coarse features, and oligosaccharides in urines

Ahmed Y. BoAli, Kalthoum Tlili-Graiess, Amal M. AlHashem and Brahim M. Tabarki
Neurosciences Journal October 2017, 22 (4) 325-327; DOI: https://doi.org/10.17712/nsj.2017.4.20170225

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  • Figure 1
    Figure 1

    A brain MRI/MR axial (a and b) T2-weighted MR images show severe hypomyelination with a low signal of the globus pallidus within the medial and lateral segments separated by the hyperintense medial medullary laminae (white long arrows). The internal medullary laminae of the thalami are hyperintense (open arrows). A high signal intensity alteration is seen in both the putamina (short black arrows). The gradient echo weighted image (c) clearly shows the low signal of the globus pallidus (long black arrows)

  • Figure 2
    Figure 2

    Single voxel MR spectroscopy (TE 35 ms) in the left basal ganglia (a) and the anterior centrum semiovale (b) demonstrates an abnormal broad and high peak at approximately 3.5-3.9 ppm composed of multiple peaks, the highest at 3.8 compatible with mannose (long arrow) and a second peak at 1.2 ppm (short arrow) representing fucose (this peak can easily be confused with the lactate peak, usually at 1.3 ppm).

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