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Pediatrics
Diagnosis
Brain
Pathology-Based Diagnoses
Inherited Metabolic/Degenerative Disorders
Organic and Aminoacidopathies
Metabolic Brain Disease
Metabolic Brain Disease
Blaise V. Jones, MD
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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)
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)
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
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