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/
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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