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Chapter 52 - Magnetic resonance spectroscopy in pediatric white matter disease

from Section 8 - Pediatrics

Published online by Cambridge University Press:  05 March 2013

By
Knut Brockmann ,
Peter Dechent  and
Folker Hanefeld
Edited by
Jonathan H. Gillard ,
Adam D. Waldman  and
Peter B. Barker
Jonathan H. Gillard
Affiliation:
University of Cambridge
Adam D. Waldman
Affiliation:
Imperial College London
Peter B. Barker
Affiliation:
The Johns Hopkins University School of Medicine
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Summary

Introduction

Magnetic resonance spectroscopy (MRS) provides in vivo information into the metabolic alterations occurring during the different stages of white matter (WM) diseases. Inborn metabolic/genetic disorders are considered here, while the acquired, mainly inflammatory or hypoxic–ischemic conditions, are addressed in Chs. 28, 30, and 48.

This chapter describes metabolic characteristics as shown by MRS of WM caused primarily by hereditary conditions (leukodystrophies; Table 52.1). The classification of leukoencephalopathies used here is based on the concept of hypomyelination and demyelination (Table 52.2). Some of these disorders are discussed in Chs. 30 and 53.

Several comprehensive reviews on this topic are available. Most publications deal with individual disease entities and will be referred to in the respective sections.

Lysosomal disorders

Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD, MIM #250100) is an autosomal recessive lysosomal storage disorder caused by mutations in the gene ARSA on chromosome 22q13.31-qter. A deficiency of arylsulfatase A leads to accumulation of cerebroside sulfates in cerebral WM and peripheral nerves.

Type
Chapter
Information
Clinical MR Neuroimaging
Physiological and Functional Techniques
 , pp. 806 - 822
Publisher: Cambridge University Press
Print publication year: 2009

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