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- Title
Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla.
- Authors
Pfeifer, Cory M.; Martinot, Carlos A.
- Abstract
Zellweger syndrome, also referred to as cerebrohepatorenal syndrome, is a rare autosomal recessive disease representing the most severe form of the peroxisomal biogenesis disorders. Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration. Due to the rare and severe nature of this disorder, early mortality, and comorbidities that place the patient at risk for sedated imaging, high-resolution magnetic resonance imaging findings of Zellweger syndrome are scarce in the literature. Presented here is a case of this rare disease imaged at 3.0 Tesla.
- Subjects
INFANT mortality; MAGNETIC resonance imaging; PEROXISOMAL disorders; COMORBIDITY; ZELLWEGER Syndrome; CHILDREN
- Publication
Neuroradiology Journal, 2017, Vol 30, Issue 5, p442
- ISSN
1971-4009
- Publication type
Article
- DOI
10.1177/1971400917700670