Zellweger syndrome

Depiction of MRI findings in early infancy at 3.0 Tesla

Cory M. Pfeifer, Carlos A. Martinot

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)442-444
Number of pages3
JournalNeuroradiology Journal
Volume30
Issue number5
DOIs
StatePublished - Oct 1 2017

Fingerprint

Zellweger Syndrome
Peroxisomal Disorders
Rare Diseases
Comorbidity
Magnetic Resonance Imaging
Mortality

Keywords

  • Cerebrohepatorenal syndrome
  • peroxisomal disorder
  • Zellweger syndrome

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

Cite this

Zellweger syndrome : Depiction of MRI findings in early infancy at 3.0 Tesla. / Pfeifer, Cory M.; Martinot, Carlos A.

In: Neuroradiology Journal, Vol. 30, No. 5, 01.10.2017, p. 442-444.

Research output: Contribution to journalArticle

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