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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

                              1. Alqahtani E et al: Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol. 18(2):211-7, 2014
                              2. Ruder J et al: Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes. Pediatr Neurol. 51(4):553-6, 2014
                              3. Das S et al: Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol. 45(3):203-5, 2011
                              4. Oldham MS et al: Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol. 42(1):49-52, 2010
                              5. Bindu PS et al: Cranial MRI in acute hyperammonemic encephalopathy. Pediatr Neurol. 41(2):139-42, 2009
                              6. 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

                                                          1. Alqahtani E et al: Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol. 18(2):211-7, 2014
                                                          2. Ruder J et al: Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes. Pediatr Neurol. 51(4):553-6, 2014
                                                          3. Das S et al: Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol. 45(3):203-5, 2011
                                                          4. Oldham MS et al: Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol. 42(1):49-52, 2010
                                                          5. Bindu PS et al: Cranial MRI in acute hyperammonemic encephalopathy. Pediatr Neurol. 41(2):139-42, 2009
                                                          6. Mourmans J et al: Sequential MR imaging changes in nonketotic hyperglycinemia. AJNR Am J Neuroradiol. 27(1):208-11, 2006