Meanings of peroxisome biogenesis disorder spectrum in English

It confirms and extends knowledge of the characteristic cMRI pattern in ZSS patients.

The diagnosis of ZSS relies on the clinical presentation and the biochemical evaluation of peroxisomal metabolites.

In the absence of pronounced clinical features of ZSS, neuroradiological findings may lead the way to the diagnosis.

Nevertheless, an abnormal gyration pattern might be more frequent in patients with a mild ZSS than deduced from previous studies.

Polymicrogyria and pachygyria were more common in patients with severe ZSS, while leukencephalopathy increases with age in patients with longer survival.