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
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
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
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
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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