This case suggests next-generation sequencing may be diagnostic in some atypical peroxisomalbiogenesisdisorders.
Uso de zss em inglês
1
It confirms and extends knowledge of the characteristic cMRI pattern in ZSS patients.
2
The diagnosis of ZSS relies on the clinical presentation and the biochemical evaluation of peroxisomal metabolites.
3
In the absence of pronounced clinical features of ZSS, neuroradiological findings may lead the way to the diagnosis.
4
Nevertheless, an abnormal gyration pattern might be more frequent in patients with a mild ZSS than deduced from previous studies.
5
Polymicrogyria and pachygyria were more common in patients with severe ZSS, while leukencephalopathy increases with age in patients with longer survival.
6
The present study evaluated the cMRI results of additional 18 patients, 6 with a severe and 12 with a milder ZSS phenotype.