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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), cerebrohepatorenal syndrome
Definitions
- Autosomal recessive disorder of peroxisome biogenesis due to pathogenic variants of PEX gene with mild to severe phenotype
- Zellweger spectrum disorder (ZSD) encompasses ZS, NALD, and IRD
- Prenatal phenotype (ZS) is typically severe and life limiting
IMAGING
General Features
Ultrasonographic Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- Lu P et al: A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review. Transl Pediatr. 10(2):446-53, 2021
- Cheillan D: Zellweger syndrome disorders: from severe neonatal disease to atypical adult presentation. Adv Exp Med Biol. 1299:71-80, 2020
- Rife E et al: Stippled chondral calcifications of the patella in Zellweger syndrome. J Pediatr. 192:265, 2018
- Shen O et al: Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome. Prenat Diagn. 36(9):894-5, 2016
- Aydemir O et al: Fetal echogenic bowel in association with Zellweger syndrome. J Obstet Gynaecol Res. 40(6):1799-802, 2014
- Mochel F et al: Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome. AJNR Am J Neuroradiol. 27(2):333-6, 2006
- Steinberg SJ et al: Peroxisome biogenesis disorders, Zellweger syndrome spectrum. Gene Reviews. Published January 12, 2003. Reviewed October 29, 2020. Accessed August 28, 2020. https://www.ncbi.nlm.nih.gov/books/NBK1448/
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References
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Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), cerebrohepatorenal syndrome
Definitions
- Autosomal recessive disorder of peroxisome biogenesis due to pathogenic variants of PEX gene with mild to severe phenotype
- Zellweger spectrum disorder (ZSD) encompasses ZS, NALD, and IRD
- Prenatal phenotype (ZS) is typically severe and life limiting
IMAGING
General Features
Ultrasonographic Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- Lu P et al: A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review. Transl Pediatr. 10(2):446-53, 2021
- Cheillan D: Zellweger syndrome disorders: from severe neonatal disease to atypical adult presentation. Adv Exp Med Biol. 1299:71-80, 2020
- Rife E et al: Stippled chondral calcifications of the patella in Zellweger syndrome. J Pediatr. 192:265, 2018
- Shen O et al: Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome. Prenat Diagn. 36(9):894-5, 2016
- Aydemir O et al: Fetal echogenic bowel in association with Zellweger syndrome. J Obstet Gynaecol Res. 40(6):1799-802, 2014
- Mochel F et al: Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome. AJNR Am J Neuroradiol. 27(2):333-6, 2006
- Steinberg SJ et al: Peroxisome biogenesis disorders, Zellweger syndrome spectrum. Gene Reviews. Published January 12, 2003. Reviewed October 29, 2020. Accessed August 28, 2020. https://www.ncbi.nlm.nih.gov/books/NBK1448/
