TRADITIONAL POSTER - ismrm

Poster Sessions
2125. A Seven Years Quantitative MRI and MRS Follow-Up Study on Successful Bone Marrow
Transplantation for Presymptomatic Juvenile Metachromatic Leukodystrophy
Xiao-Qi Ding 1 , Annette Bley 2 , Alfried Kohlschütter 2 , Jens Fiehler 3 , Heinrich Lanfermann 1
1 Institute of Diagnostic and Interventional Neuroradiology , Hannover Medical School, Hannover, Germany; 2 Department of
Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany; 3 Department of Neuroradiology, University
Medical Centre Hamburg-Eppend, Hamburg, Germany
Bone marrow transplantation (BMT) has been advocated as treatment of juvenile metachromatic leukodystrophy (MLD). The effectiveness of this high-risk
treatment is still questionable due to the rarity of follow-up reports. We carried out a 7 years MRI follow-up on a boy with juvenile MLD who had received
BMT treatment in the presymptomatic phase and remained free of MLD symptoms during the observation. Conventional morphological MRI showed minor
stable white matter lesions while quantitative T2-mapping and MR spectroscopy evidenced a stagnancy of the demyelination process and an ongoing
maturation of the brain.
2126. Voxelwise Analysis of Pelizeaus-Merzbacher Disease in 17 Genetically Proven Cases Using Diffusion
Tensor Imaging
Onur Ozyurt 1 , Alp Dincer 2 , Zuhal Yapici 3 , Cengiz Yalcinkaya 4 , Mefkure Eraksoy 3 , Cengizhan Ozturk 1
1 Bogazici University, Biomedical Engineering Institute, Istanbul, Turkey; 2 Acibadem University, School of Medicine, Department of
Radiology; 3 Istanbul University, Istanbul Faculty of Medicine, Department of Neurology; 4 Istanbul University, Cerrahpasa Medical
Faculty, Department of Neurology
In this study, tract based spatial statistics (TBSS) approach is used for the investigation of Pelizeaus-Merzbacher Disease (PMD), which is a rare X-linked
disease characterized by defective central nervous system myelination due to a mutation in the proteolipid protein 1 gene.
2127. In Vivo Proton MR Spectroscopy Findings Specific for Adenylosuccinate Lyase Deficiency
Steffi Dreha-Kulaczewski 1 , Marco Henneke 1 , Knut Brockmann 1 , Marinette van der Graaf 2,3 , Michel
Willemsen 4 , Udo Engelke 5 , Peter Dechent 6 , Arend Heerschap 3 , Gunther Helms 6 , Ron Wevers 5 , Jutta
Gaertner 1
1 Department of Pediatrics and Pediatric Neurology, Georg August University, Goettingen, Germany; 2 Clinical Physics Laboratory in
the Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; 3 Department of Radiology,
Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; 4 Department of Pediatric Neurology, Radboud University
Nijmegen Medical Center, Nijmegen, Netherlands; 5 Laboratory of Genetic, Endocrine and Metabolic Diseases, Department of
Laboratory Medicine, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands; 6 MR-Research in Neurology and
Psychiatry, Georg August University, Goettingen, Germany
Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder and characterized by the accumulation of succinylaminoimidazolecarboxamide
riboside and succinyladenosine (S-Ado) in tissue and body fluids. In three children, presenting with psychomotor delay, autistic features, and white matter
changes on brain MRI, screening for inborn errors of metabolism included in vitro proton MRS. It revealed resonances at 8.27 and 8.29ppm that correspond
to S-Ado. In vivo proton MRS showed a signal at 8.3ppm in gray and white matter brain regions of all three patients, which was undetectable in controls. In
vivo proton MRS provides a conclusive finding in ADSL deficiency.
2128. Cerebral Accumulation of 3-Hydroxyisovaleric Acid in Adults Until Recently Unaware of Having 3-
Methylcrotonyl-CoA Carboxylase (MCC) Deficiency
Marinette van der Graaf 1,2 , Udo F.H. Engelke 3 , Eva Morava 4 , Mirian C.H. Janssen 5 , Maaike C. de Vries 4 ,
Leo AJ Kluijtmans 3 , Bozena Goraj 1 , Arend Heerschap 1 , Ron A. Wevers 3
1 Radiology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands; 2 Clinical Physics Laboratory, Radboud
University Nijmegen Medical Centre, Nijmegen, Netherlands; 3 Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud
University Nijmegen Medical Centre, Nijmegen, Netherlands; 4 Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen,
Netherlands; 5 General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
Recently, our group showed for the first time cerebral accumulation of 3-hydroxyisovaleric acid (3HIVA) in a pediatric patient with 3-Methylcrotonyl-CoA
Carboxylase deficiency (MCCD). 3HIVA has been considered to have neurotoxic effects, but this is under debate. The present study reports on cerebral
accumulation of 3HIVA detected by 3T proton MRS in two adult women with MCCD, whom deficiency was discovered by a positive neonatal screening of
their healthy new-born babies. As the women had not been aware of having this disorder before and they have no or limited complaints, 3HIVA is
postulated to have no or minor neurotoxic effect.
2129. White Matter Lesion Load in Type 2 Diabetes - A VBM Study
Lars Eric Forsberg 1,2 , Sigurdur Sigurdsson 3 , Thor Aspelund 3,4 , Jesper Fredriksson 2 , Smári Kristinsson 2 ,
Ólafur Kjartansson 3 , Bryndís Óskarsdóttir 3 , Pálmi V. Jónsson 3,4 , Gudný Eiríksdóttir 3 , Tamara B. Harris 5 ,
Mark A. van Buchem 6 , Alex Zijdenbos 7 , Lenore J. Launer 5 , Vilmundur Gudnason 3,4
1 Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden; 2 Raförninn ehf, Reykjavik, Iceland; 3 Icelandic Heart
Association, Kopavogur, Iceland; 4 The University of Iceland, Reykjavik, Iceland; 5 Laboratory of Epidemiology, Demography, and
Biometry, National Institute of Aging, Bethesda, MD, United States; 6 Department of Radiology, Leiden University Medical Center,
Leiden, Netherlands; 7 Biospective Inc., Montreal, Canada
Type 2 diabetes (DM2) is a known risk factor for white matter lesions (WML) in elderly subjects. In this study, we used voxel-based morphometry (VBM)
to analyse the common distribution of WML in 215 subjects with DM2 (average age 76.1 years) compared to 1675 non-diabetic controls (average age 75.8
years). Our main finding is that DM2 subjects have commonly large WML areas in the brain that extend from the frontal lobe to the parietal lobe.