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MRI and In Vivo Spectroscopy of the Brain

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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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Summary

Most inborn errors of metabolism (IEMs) have a potential for central nervous system (CNS) injury resulting in chronic encephalopathy. IEMs may affect CNS structures in a manner dependent upon disorder type, stage of brain development, severity, and/or duration. Several of the disorders share a final common pathway to brain dysfunction such as disruption of astrocyte function, excitotoxicity, and/or energy failure.

Neuroimaging has emerged as a powerful clinical tool to study the brain in a noninvasive manner in order to assist in distinguishing disorders from one another, despite very similar clinical manifestations. As there are limited ways in which the CNS can respond to insults, imaging manifestations are often nonspecific. Nonetheless, there is a striking anatomical pattern of vulnerability in many IEMs. Some IEMs cause reasonably predictable disease patterns that can be suggestive or diagnostic. Specific neuroimaging patterns of inborn metabolic errors are the focus of this chapter.

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Authors and Affiliations

  1. Department of Radiology, Children’s National Health System, Washington, DC, USA

    Matthew T. Whitehead

  2. Department of Neurology, Children’s National Health System, Washington, DC, USA

    Andrea Gropman

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  1. Matthew T. Whitehead
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  2. Andrea Gropman
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Correspondence to Matthew T. Whitehead .

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Editors and Affiliations

  1. Division of Metabolism, University Children’s Hospital, Zürich, Switzerland

    Nenad Blau

  2. Division of Metabolic Disease, Department of Pediatric Subspecialties, Bambino Gesù Children’s Hospital-IRCCS, Rome, Italy

    Carlo Dionisi Vici

  3. Division of Genetics and Metabolism, Children’s National Health System, Washington, DC, USA

    Carlos R. Ferreira

  4. Department of Inborn Errors of Metabolism and Newborn Screening, CHU Lyon, Centre de Biologie et de Pathologie Est, Bron Cedex, France

    Christine Vianey-Saban

  5. Departments of Pediatrics and Human Genetics, Emma Children’s Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands

    Clara D. M. van Karnebeek

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Whitehead, M.T., Gropman, A. (2022). MRI and In Vivo Spectroscopy of the Brain. In: Blau, N., Dionisi Vici, C., Ferreira, C.R., Vianey-Saban, C., van Karnebeek, C.D.M. (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-67727-5_8

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