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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
- Peroxisomal Biogenesis Disorders (PBD)
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)
- Disorders of peroxisome biosynthesis, assembly, and biochemical functions
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
- Tan AP et al: Clinical and neuroimaging spectrum of peroxisomal disorders. Top Magn Reson Imaging. 27(4):241-57, 2018
- 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
- Salpietro V et al: Zellweger syndrome and secondary mitochondrial myopathy. Eur J Pediatr. 174(4):557-63, 2015
- Crane DI: Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 69:1-8, 2014
- van der Knaap MS et al: MRI as diagnostic tool in early-onset peroxisomal disorders. Neurology. 78(17):1304-8, 2012
- Kulkarni KS et al: Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? Neuropediatrics. 42(1):32-4, 2011
- Krause C et al: Rational diagnostic strategy for Zellweger syndrome spectrum patients. Eur J Hum Genet. 17(6):741-8, 2009
- Weller S et al: Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis. 31(2):270-80, 2008
- Barkovich AJ et al: MR of Zellweger syndrome. AJNR Am J Neuroradiol. 18(6):1163-70, 1997
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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
- Peroxisomal Biogenesis Disorders (PBD)
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)
- Disorders of peroxisome biosynthesis, assembly, and biochemical functions
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
- Tan AP et al: Clinical and neuroimaging spectrum of peroxisomal disorders. Top Magn Reson Imaging. 27(4):241-57, 2018
- 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
- Salpietro V et al: Zellweger syndrome and secondary mitochondrial myopathy. Eur J Pediatr. 174(4):557-63, 2015
- Crane DI: Revisiting the neuropathogenesis of Zellweger syndrome. Neurochem Int. 69:1-8, 2014
- van der Knaap MS et al: MRI as diagnostic tool in early-onset peroxisomal disorders. Neurology. 78(17):1304-8, 2012
- Kulkarni KS et al: Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? Neuropediatrics. 42(1):32-4, 2011
- Krause C et al: Rational diagnostic strategy for Zellweger syndrome spectrum patients. Eur J Hum Genet. 17(6):741-8, 2009
- Weller S et al: Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis. 31(2):270-80, 2008
- Barkovich AJ et al: MR of Zellweger syndrome. AJNR Am J Neuroradiol. 18(6):1163-70, 1997
