Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease
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 . The PBDs are caused by mutations in one of at least 14 different PEX genes, which encode proteins called peroxins . Early life clinical manifestations include hypotonia, seizures, skeletal abnormalities, optic-nerve hypoplasia, and liver abnormalities, leading to jaundice and early death . Brain magnetic resonance imaging (MRI) classically shows germinolytic cysts, cortical malformations, and hypomyelination . 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...
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Conflict of interest
On behalf of all authors, the corresponding author declares that there is no conflict of interest.
- 4.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