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Neuroimaging of Pediatric Metabolic Disorders with Emphasis on Diffusion-Weighted Imaging and MR Spectroscopy: A Pictorial Essay

  • Pediatrics (L Averill, Section Editor)
  • Published:
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Abstract

Purpose of Review

Although individually rare, metabolic brain disorders together account for significant disease burden in infants and children. MRI evaluation of these disorders is daunting, but using a pattern-based approach is helpful. Here we present 10 of the most commonly encountered metabolic brain disorders, highlighting specific features on DWI and MR spectroscopy that help narrow the differential diagnosis.

Recent findings

A number of metabolic diseases result in elevated lactate at 1.3 ppm in affected areas. Other metabolite derangements, though, are more helpful in determining the underlying disease. MR spectroscopy showing elevated glycine at 3.55 ppm indicates nonketotic hyperglycinemia, while markedly elevated NAA at 2.0 ppm is characteristic of Canavan disease. NAA will be low in diseases causing neuronal loss, and can be even absent in Alexander disease. Absent or severely low creatine at 3.0 ppm is specific for the family of creatine deficiency syndromes. The pattern of restricted diffusion seen with DWI can also point to a specific diagnosis, especially with brainstem and cerebellar white matter involvement seen with maple syrup urine disease. Additionally, both MR spectroscopy and DWI can be used to follow disease progression or response to therapy.

Summary

DWI and MR spectroscopy are useful adjuncts to anatomic brain imaging in the evaluation of pediatric metabolic brain disorders.

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Authors and Affiliations

  1. Department of Radiology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA

    Kofi-Buaku Atsina

  2. Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA

    Lauren W. Averill

  3. Medical Imaging, Nemours Children’s Health System, Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803, USA

    Lauren W. Averill & Vinay V. R. Kandula

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  1. Kofi-Buaku Atsina
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Correspondence to Vinay V. R. Kandula.

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Kofi-Buaku Atsina and Vinay V. R. Kandula each declare no potential conflicts of interest. Lauren W. Averill is a section editor for Current Radiology Reports.

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Atsina, KB., Averill, L.W. & Kandula, V.V.R. Neuroimaging of Pediatric Metabolic Disorders with Emphasis on Diffusion-Weighted Imaging and MR Spectroscopy: A Pictorial Essay. Curr Radiol Rep 5, 60 (2017). https://doi.org/10.1007/s40134-017-0251-7

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