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Zellweger Syndrome and Peroxisomal Biogenesis Disorders
Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Peroxisomal Biogenesis Disorders (PBD)
                • Zellweger syndrome (ZS)
                • Neonatal adrenoleukodystrophy (NALD)
                • Infantile Refsum disease (IRD)
                • Rhizomelic chondrodysplasia punctata (RCDP) type 1
                • Heimler syndrome (HS)
              • Peroxisomal enzyme deficiencies (PED)
                • Adrenoleukodystrophy protein deficiency (X-ALD)
                • Alkyl-DHAP-synthase deficiency (RCDP type 3)
                • Acyl-CoA oxidase deficiency
                • D-bifunctional protein deficiency (D-BP)
                • Sterol carrier protein X deficiency (SCPx)
                • 2-methylacyl CoA racemase deficiency (AMACR)
                • DHAP-alkyl transferase deficiency (DHAPAT; RCDP type 2)
                • Adult Refsum disease (ARD)
                • Primary hyperoxaluria type 1
                • Acatalasemia
            • Synonyms

              • Zellweger syndrome spectrum (ZSS)
              • Cerebrohepatorenal syndrome
              • Peroxisome biogenesis disorders
            • Definitions

              • Disorders of peroxisome biosynthesis, assembly, and biochemical functions
                • Caused by defective peroxisome biogenesis
              • Varying phenotypes reflect degree of dysfunction
                • Severe: Zellweger syndrome (ZS)
                • Moderate: Neonatal adrenoleukodystrophy (NALD)
                • Mild: Infantile Refsum disease (IRD), Heimler syndrome (HS)
              • Related disorders
                • Multiple peroxisomal enzyme deficiencies: Rhizomelic chondrodysplasia punctata (RCDP)
                • Single peroxisomal enzyme deficiency: Acyl-CoA oxidase deficiency, adrenoleukodystrophy protein deficiency (X-ALD), D-bifunctional protein deficiency (D-BP)

            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. Tan AP et al: Clinical and neuroimaging spectrum of peroxisomal disorders. Top Magn Reson Imaging. 27(4):241-57, 2018
                                  2. Braverman NE et al: Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 117(3):313-21, 2016
                                  3. Salpietro V et al: Zellweger syndrome and secondary mitochondrial myopathy. Eur J Pediatr. 174(4):557-63, 2015
                                  4. Crane DI: Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 69:1-8, 2014
                                  5. van der Knaap MS et al: MRI as diagnostic tool in early-onset peroxisomal disorders. Neurology. 78(17):1304-8, 2012
                                  6. Kulkarni KS et al: Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? Neuropediatrics. 42(1):32-4, 2011
                                  7. Krause C et al: Rational diagnostic strategy for Zellweger syndrome spectrum patients. Eur J Hum Genet. 17(6):741-8, 2009
                                  8. Weller S et al: Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis. 31(2):270-80, 2008
                                  9. 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

                                              • Peroxisomal Biogenesis Disorders (PBD)
                                                • Zellweger syndrome (ZS)
                                                • Neonatal adrenoleukodystrophy (NALD)
                                                • Infantile Refsum disease (IRD)
                                                • Rhizomelic chondrodysplasia punctata (RCDP) type 1
                                                • Heimler syndrome (HS)
                                              • Peroxisomal enzyme deficiencies (PED)
                                                • Adrenoleukodystrophy protein deficiency (X-ALD)
                                                • Alkyl-DHAP-synthase deficiency (RCDP type 3)
                                                • Acyl-CoA oxidase deficiency
                                                • D-bifunctional protein deficiency (D-BP)
                                                • Sterol carrier protein X deficiency (SCPx)
                                                • 2-methylacyl CoA racemase deficiency (AMACR)
                                                • DHAP-alkyl transferase deficiency (DHAPAT; RCDP type 2)
                                                • Adult Refsum disease (ARD)
                                                • Primary hyperoxaluria type 1
                                                • Acatalasemia
                                            • Synonyms

                                              • Zellweger syndrome spectrum (ZSS)
                                              • Cerebrohepatorenal syndrome
                                              • Peroxisome biogenesis disorders
                                            • Definitions

                                              • Disorders of peroxisome biosynthesis, assembly, and biochemical functions
                                                • Caused by defective peroxisome biogenesis
                                              • Varying phenotypes reflect degree of dysfunction
                                                • Severe: Zellweger syndrome (ZS)
                                                • Moderate: Neonatal adrenoleukodystrophy (NALD)
                                                • Mild: Infantile Refsum disease (IRD), Heimler syndrome (HS)
                                              • Related disorders
                                                • Multiple peroxisomal enzyme deficiencies: Rhizomelic chondrodysplasia punctata (RCDP)
                                                • Single peroxisomal enzyme deficiency: Acyl-CoA oxidase deficiency, adrenoleukodystrophy protein deficiency (X-ALD), D-bifunctional protein deficiency (D-BP)

                                            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. Tan AP et al: Clinical and neuroimaging spectrum of peroxisomal disorders. Top Magn Reson Imaging. 27(4):241-57, 2018
                                                                  2. Braverman NE et al: Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 117(3):313-21, 2016
                                                                  3. Salpietro V et al: Zellweger syndrome and secondary mitochondrial myopathy. Eur J Pediatr. 174(4):557-63, 2015
                                                                  4. Crane DI: Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 69:1-8, 2014
                                                                  5. van der Knaap MS et al: MRI as diagnostic tool in early-onset peroxisomal disorders. Neurology. 78(17):1304-8, 2012
                                                                  6. Kulkarni KS et al: Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? Neuropediatrics. 42(1):32-4, 2011
                                                                  7. Krause C et al: Rational diagnostic strategy for Zellweger syndrome spectrum patients. Eur J Hum Genet. 17(6):741-8, 2009
                                                                  8. Weller S et al: Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis. 31(2):270-80, 2008
                                                                  9. Barkovich AJ et al: MR of Zellweger syndrome. AJNR Am J Neuroradiol. 18(6):1163-70, 1997