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Neurometabolic diseases of childhood

  • Advances in Pediatric Neuroradiology
  • Published:
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Abstract

Metabolic diseases affecting the pediatric brain are complex conditions, the underlying mechanisms leading to structural damage are diverse and the diagnostic imaging manifestations are often non-specific; hence early, sensitive and specific diagnosis can be challenging for the radiologist. However, misdiagnosis or a delayed diagnosis can result in a devastating, irreversible injury to the developing brain. Based upon the inborn error, neurometabolic diseases can be subdivided in various groups depending on the predominantly involved tissue (e.g., white matter in leukodystrophies or leukoencephalopathies), the involved metabolic processes (e.g., organic acidurias and aminoacidopathies) and primary age of the child at presentation (e.g., neurometabolic disorders of the newborn). This manuscript summarizes these topics.

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Conflicts of interest

Drs. Patay, Blaser, Poretti and Huisman have no financial interests, investigational or off-label uses to disclose.

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Authors and Affiliations

  1. Section of Neuroradiology, Division of Radiology, Department of Radiological Sciences, St. Jude Children′s Research Hospital, Memphis, TN, USA

    Zoltan Patay

  2. Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada

    Susan I. Blaser

  3. Pediatric Radiology and Pediatric Neuroradiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins School of Medicine, Charlotte R. Bloomberg Children’s Center, Sheikh Zayed Tower, Rm. 4174, 1800 Orleans St., Baltimore, MD, 21287-0842, USA

    Andrea Poretti & Thierry A. G. M. Huisman

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  1. Zoltan Patay
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  2. Susan I. Blaser
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  3. Andrea Poretti
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  4. Thierry A. G. M. Huisman
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Correspondence to Thierry A. G. M. Huisman.

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Patay, Z., Blaser, S.I., Poretti, A. et al. Neurometabolic diseases of childhood. Pediatr Radiol 45 (Suppl 3), 473–484 (2015). https://doi.org/10.1007/s00247-015-3279-y

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  • DOI: https://doi.org/10.1007/s00247-015-3279-y

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