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Zellweger Syndrome
P. Ellen Grant, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Zellweger syndrome (ZS)
            • Synonyms

              • Cerebrohepatorenal syndrome
              • Zellweger syndrome spectrum (ZSS)
            • Definitions

              • ZSS: ZS + neonatal adrenoleukodystrophy + infantile Refsum disease
              • Peroxisome biogenesis disorders: ZSS (80%) + rhizomelic chondrodysplasia punctata (RCDP)

            IMAGING

            • General Features

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Gross Pathologic & Surgical Features

                        • Microscopic Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  Selected References

                                  1. Salpietro V et al: Zellweger syndrome and secondary mitochondrial myopathy. Eur J Pediatr. 174(4):557-63, 2015
                                  2. Crane DI: Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 69:1-8, 2014
                                  3. van der Knaap MS et al: MRI as diagnostic tool in early-onset peroxisomal disorders. Neurology. 78(17):1304-8, 2012
                                  4. Kulkarni KS et al: Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? Neuropediatrics. 42(1):32-4, 2011
                                  5. Krause C et al: Rational diagnostic strategy for Zellweger syndrome spectrum patients. Eur J Hum Genet. 17(6):741-8, 2009
                                  6. Weller S et al: Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis. 31(2):270-80, 2008
                                  7. Barkovich AJ et al: MR of Zellweger syndrome. AJNR Am J Neuroradiol. 18(6):1163-70, 1997
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Abbreviations

                                              • Zellweger syndrome (ZS)
                                            • Synonyms

                                              • Cerebrohepatorenal syndrome
                                              • Zellweger syndrome spectrum (ZSS)
                                            • Definitions

                                              • ZSS: ZS + neonatal adrenoleukodystrophy + infantile Refsum disease
                                              • Peroxisome biogenesis disorders: ZSS (80%) + rhizomelic chondrodysplasia punctata (RCDP)

                                            IMAGING

                                            • General Features

                                              • MR Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Gross Pathologic & Surgical Features

                                                        • Microscopic Features

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  Selected References

                                                                  1. Salpietro V et al: Zellweger syndrome and secondary mitochondrial myopathy. Eur J Pediatr. 174(4):557-63, 2015
                                                                  2. Crane DI: Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 69:1-8, 2014
                                                                  3. van der Knaap MS et al: MRI as diagnostic tool in early-onset peroxisomal disorders. Neurology. 78(17):1304-8, 2012
                                                                  4. Kulkarni KS et al: Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? Neuropediatrics. 42(1):32-4, 2011
                                                                  5. Krause C et al: Rational diagnostic strategy for Zellweger syndrome spectrum patients. Eur J Hum Genet. 17(6):741-8, 2009
                                                                  6. Weller S et al: Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis. 31(2):270-80, 2008
                                                                  7. Barkovich AJ et al: MR of Zellweger syndrome. AJNR Am J Neuroradiol. 18(6):1163-70, 1997