link
Bookmarks
Zellweger Spectrum Disorder
Brian L. Shaffer, MD; Roya Sohaey, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Subscribe
0
0
0
0

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

                                1. 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
                                2. Cheillan D: Zellweger syndrome disorders: from severe neonatal disease to atypical adult presentation. Adv Exp Med Biol. 1299:71-80, 2020
                                3. Rife E et al: Stippled chondral calcifications of the patella in Zellweger syndrome. J Pediatr. 192:265, 2018
                                4. 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
                                5. Aydemir O et al: Fetal echogenic bowel in association with Zellweger syndrome. J Obstet Gynaecol Res. 40(6):1799-802, 2014
                                6. 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
                                7. 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/
                                Related Anatomy
                                Loading...
                                Related Differential Diagnoses
                                Loading...
                                References
                                Tables

                                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

                                                              1. 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
                                                              2. Cheillan D: Zellweger syndrome disorders: from severe neonatal disease to atypical adult presentation. Adv Exp Med Biol. 1299:71-80, 2020
                                                              3. Rife E et al: Stippled chondral calcifications of the patella in Zellweger syndrome. J Pediatr. 192:265, 2018
                                                              4. 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
                                                              5. Aydemir O et al: Fetal echogenic bowel in association with Zellweger syndrome. J Obstet Gynaecol Res. 40(6):1799-802, 2014
                                                              6. 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
                                                              7. 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/