Abstract #0056
Glycogen accumulation in the brain of classic-infantile Pompe patient measured with single-voxel 1H MRS and 2D-MRSI at 7T
Chloé Najac1, Vincent O. Boer2, Nadine A.M.E. van der Beek3, Ans T. van der Ploeg4, Itamar Ronen1, Johanna M.P. van den Hout4, and Hermien E. Kan1
1C.J. Gorter Center for High Field MRI, Department of Radiology, Leiden, Netherlands, 2Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Copenhagen, Denmark, 3Center for Lysosomal and Metabolic diseases, Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands, 4Center for Lysosomal and Metabolic diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, Netherlands
Synopsis
Pompe disease is caused by an abnormal accumulation of glycogen in the lysosomes of multiple tissues including the brain due to a deficit in acid α-glucosidase (GAA). The development of enzyme replacement therapy with recombinant human GAA (rhGAA) has dramatically improved patients’ survival, however, rhGAA does not reach the brain which remains untreated. Consequently, classic-infantile Pompe patients may develop progressive white matter lesions and cognitive problems. Here, we used single-voxel 1H MRS and spectroscopic imaging and found an accumulation of glycogen and significant decrease in total-N-acetyl-aspartate in the brain of classic-infantile patients (n=3) when compared to age-matched healthy controls (n=3).
This abstract and the presentation materials are available to members only;
a login is required.
Join Here
