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KEY FACTS
Terminology
Imaging
TERMINOLOGY
Definitions
- Inborn errors of metabolism affecting brain
- Exclusive of mitochondrial encephalopathies & leukodystrophies
- Mucopolysaccharidoses (MPS)
- Hunter, Hurler, Sanfilippo, Morquio, Maroteaux-Lamy, Sly, Natowicz syndromes
- Organic & aminoacidopathies
- 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
MPS
Organic & Aminoacidopathies
Urea Cycle Disorders
Fatty Acid Oxidation Disorders
CLINICAL ISSUES
MPS
Organic & Aminoacidopathies
Urea Cycle Disorders
Fatty Acid Oxidation Disorders
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- 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
- 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
TERMINOLOGY
Definitions
- Inborn errors of metabolism affecting brain
- Exclusive of mitochondrial encephalopathies & leukodystrophies
- Mucopolysaccharidoses (MPS)
- Hunter, Hurler, Sanfilippo, Morquio, Maroteaux-Lamy, Sly, Natowicz syndromes
- Organic & aminoacidopathies
- 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
MPS
Organic & Aminoacidopathies
Urea Cycle Disorders
Fatty Acid Oxidation Disorders
CLINICAL ISSUES
MPS
Organic & Aminoacidopathies
Urea Cycle Disorders
Fatty Acid Oxidation Disorders
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- 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
- 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
