Bookmarks
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Diagnostic Checklist
TERMINOLOGY
Definitions
- Inborn errors of metabolism affecting brain
- Exclusive of mitochondrial encephalopathies & leukodystrophies
- Peroxisomal biogenesis disorders (PBD)
- Severe: Zellweger syndrome (ZS)
- Moderate: Neonatal adrenoleukodystrophy (NALD)
- Mild: Infantile Refsum disease
- Mucopolysaccharidoses (MPS)
- Lysosomal storage disease
- Hunter, Hurler, Sanfilippo, Morquio, Maroteaux-Lamy, Sly, Natowicz syndromes
- Organic & aminoacidopathies
- Molybdenum cofactor deficiency (MoCD)
- Maple syrup urine disease (MSUD)
- Phenylketonuria (PKU)
- Nonketotic hyperglycinemia (NKH)
- Urea cycle disorders
- Deficiency of enzymes in urea cycle
- Fatty acid oxidation disorders
- Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Long-chain acyl-CoA dehydrogenase deficiency (LCAD, VLCAD)
- Carnitine palmitoyl transferase deficiencies (CPT1, CPT2)
- Inborn errors of metabolism affecting brain
IMAGING
Key Imaging Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
PBD
MPS
Organic & Aminoacidopathies
Urea Cycle Disorders
Fatty Acid Oxidation Disorders
CLINICAL ISSUES
PBD
MPS
Organic & Aminoacidopathies
Urea Cycle Disorders
Fatty Acid Oxidation Disorders
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Lim YT et al: Neuroimaging spectrum of inherited neurotransmitter disorders. Neuropediatrics. 51(1):6-21, 2020
- Reddy N et al: Neuroimaging findings of organic acidemias and aminoacidopathies. Radiographics. 38(3):912-31, 2018
- Tan AP et al: Clinical and neuroimaging spectrum of peroxisomal disorders. Top Magn Reson Imaging. 27(4):241-57, 2018
- Atwal PS et al: Molybdenum cofactor deficiency. Mol Genet Metab. 117(1):1-4, 2016
- 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
- Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
- Alqahtani E et al: Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol. 18(2):211-7, 2014
- Ruder J et al: Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes. Pediatr Neurol. 51(4):553-6, 2014
- Das S et al: Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol. 45(3):203-5, 2011
- Gropman A: Brain imaging in urea cycle disorders. Mol Genet Metab. 100 Suppl 1:S20-30, 2010
- Oldham MS et al: Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol. 42(1):49-52, 2010
- Bindu PS et al: Cranial MRI in acute hyperammonemic encephalopathy. Pediatr Neurol. 41(2):139-42, 2009
- Mourmans J et al: Sequential MR imaging changes in nonketotic hyperglycinemia. AJNR Am J Neuroradiol. 27(1):208-11, 2006
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Diagnostic Checklist
TERMINOLOGY
Definitions
- Inborn errors of metabolism affecting brain
- Exclusive of mitochondrial encephalopathies & leukodystrophies
- Peroxisomal biogenesis disorders (PBD)
- Severe: Zellweger syndrome (ZS)
- Moderate: Neonatal adrenoleukodystrophy (NALD)
- Mild: Infantile Refsum disease
- Mucopolysaccharidoses (MPS)
- Lysosomal storage disease
- Hunter, Hurler, Sanfilippo, Morquio, Maroteaux-Lamy, Sly, Natowicz syndromes
- Organic & aminoacidopathies
- Molybdenum cofactor deficiency (MoCD)
- Maple syrup urine disease (MSUD)
- Phenylketonuria (PKU)
- Nonketotic hyperglycinemia (NKH)
- Urea cycle disorders
- Deficiency of enzymes in urea cycle
- Fatty acid oxidation disorders
- Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Long-chain acyl-CoA dehydrogenase deficiency (LCAD, VLCAD)
- Carnitine palmitoyl transferase deficiencies (CPT1, CPT2)
- Inborn errors of metabolism affecting brain
IMAGING
Key Imaging Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
PBD
MPS
Organic & Aminoacidopathies
Urea Cycle Disorders
Fatty Acid Oxidation Disorders
CLINICAL ISSUES
PBD
MPS
Organic & Aminoacidopathies
Urea Cycle Disorders
Fatty Acid Oxidation Disorders
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Lim YT et al: Neuroimaging spectrum of inherited neurotransmitter disorders. Neuropediatrics. 51(1):6-21, 2020
- Reddy N et al: Neuroimaging findings of organic acidemias and aminoacidopathies. Radiographics. 38(3):912-31, 2018
- Tan AP et al: Clinical and neuroimaging spectrum of peroxisomal disorders. Top Magn Reson Imaging. 27(4):241-57, 2018
- Atwal PS et al: Molybdenum cofactor deficiency. Mol Genet Metab. 117(1):1-4, 2016
- 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
- Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
- Alqahtani E et al: Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol. 18(2):211-7, 2014
- Ruder J et al: Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes. Pediatr Neurol. 51(4):553-6, 2014
- Das S et al: Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol. 45(3):203-5, 2011
- Gropman A: Brain imaging in urea cycle disorders. Mol Genet Metab. 100 Suppl 1:S20-30, 2010
- Oldham MS et al: Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol. 42(1):49-52, 2010
- Bindu PS et al: Cranial MRI in acute hyperammonemic encephalopathy. Pediatr Neurol. 41(2):139-42, 2009
- Mourmans J et al: Sequential MR imaging changes in nonketotic hyperglycinemia. AJNR Am J Neuroradiol. 27(1):208-11, 2006
