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Child's Nervous System

, Volume 34, Issue 6, pp 1103–1104 | Cite as

Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease

  • Miguel Quintas-Neves
  • Raquel Carvalho
  • João Paulo Soares-Fernandes
Letter to the Editor

Dear Editor-in-Chief Professor Concezio Di Rocco:

Zellweger syndrome (ZS) is the most severe prototypical member of the peroxisome biogenesis disorders (PBDs), a disease group with significant neurological involvement caused by defective biogenesis of the peroxisome [1]. The PBDs are caused by mutations in one of at least 14 different PEX genes, which encode proteins called peroxins [1]. Early life clinical manifestations include hypotonia, seizures, skeletal abnormalities, optic-nerve hypoplasia, and liver abnormalities, leading to jaundice and early death [2]. Brain magnetic resonance imaging (MRI) classically shows germinolytic cysts, cortical malformations, and hypomyelination [2]. Previous studies in children with ZS [3, 4, 5] demonstrated an increase in deep white matter apparent diffusion coefficient (ADC) values associated with hypomyelination, mainly due to dysmyelination. The facilitated diffusion in the deep white matter is in accordance with dysmyelination without an...

Notes

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author declares that there is no conflict of interest.

Supplementary material

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ESM 1

(GIF 158 kb)

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High-resolution image (TIFF 480 kb)

References

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    Pfeifer CM, Martinot CA (2017) Zellweger syndrome: depiction of MRI findings in early infancy at 3.0 tesla. Neuroradiol J 30(5):442–444.  https://doi.org/10.1177/1971400917700670 CrossRefPubMedGoogle Scholar
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    Engelbrecht V, Scherer A, Rassek M, Witsack HJ, Modder U (2002) Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. Radiology 222(2):410–418.  https://doi.org/10.1148/radiol.2222010492 CrossRefPubMedGoogle Scholar
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    ter Rahe BS, Majoie CB, Akkerman EM, den Heeten GJ, Poll-The BT, Barth PG (2004) Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings. AJNR Am J Neuroradiol 25 (6):1022–1027Google Scholar
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    Patay Z (2005) Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol 15(11):2284–2303.  https://doi.org/10.1007/s00330-005-2846-2 CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of NeuroradiologyHospital de BragaBragaPortugal

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