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Metabolic Brain Disease
Blaise V. Jones, MD
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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)

          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

                                      1. Lim YT et al: Neuroimaging spectrum of inherited neurotransmitter disorders. Neuropediatrics. 51(1):6-21, 2020
                                      2. Reddy N et al: Neuroimaging findings of organic acidemias and aminoacidopathies. Radiographics. 38(3):912-31, 2018
                                      3. Tan AP et al: Clinical and neuroimaging spectrum of peroxisomal disorders. Top Magn Reson Imaging. 27(4):241-57, 2018
                                      4. Atwal PS et al: Molybdenum cofactor deficiency. Mol Genet Metab. 117(1):1-4, 2016
                                      5. 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
                                      6. Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
                                      7. Alqahtani E et al: Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol. 18(2):211-7, 2014
                                      8. Ruder J et al: Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes. Pediatr Neurol. 51(4):553-6, 2014
                                      9. Das S et al: Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol. 45(3):203-5, 2011
                                      10. Gropman A: Brain imaging in urea cycle disorders. Mol Genet Metab. 100 Suppl 1:S20-30, 2010
                                      11. Oldham MS et al: Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol. 42(1):49-52, 2010
                                      12. Bindu PS et al: Cranial MRI in acute hyperammonemic encephalopathy. Pediatr Neurol. 41(2):139-42, 2009
                                      13. 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)

                                              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

                                                                          1. Lim YT et al: Neuroimaging spectrum of inherited neurotransmitter disorders. Neuropediatrics. 51(1):6-21, 2020
                                                                          2. Reddy N et al: Neuroimaging findings of organic acidemias and aminoacidopathies. Radiographics. 38(3):912-31, 2018
                                                                          3. Tan AP et al: Clinical and neuroimaging spectrum of peroxisomal disorders. Top Magn Reson Imaging. 27(4):241-57, 2018
                                                                          4. Atwal PS et al: Molybdenum cofactor deficiency. Mol Genet Metab. 117(1):1-4, 2016
                                                                          5. 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
                                                                          6. Reichert R et al: Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics. 36(5):1448-62, 2016
                                                                          7. Alqahtani E et al: Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol. 18(2):211-7, 2014
                                                                          8. Ruder J et al: Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes. Pediatr Neurol. 51(4):553-6, 2014
                                                                          9. Das S et al: Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol. 45(3):203-5, 2011
                                                                          10. Gropman A: Brain imaging in urea cycle disorders. Mol Genet Metab. 100 Suppl 1:S20-30, 2010
                                                                          11. Oldham MS et al: Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. Pediatr Neurol. 42(1):49-52, 2010
                                                                          12. Bindu PS et al: Cranial MRI in acute hyperammonemic encephalopathy. Pediatr Neurol. 41(2):139-42, 2009
                                                                          13. Mourmans J et al: Sequential MR imaging changes in nonketotic hyperglycinemia. AJNR Am J Neuroradiol. 27(1):208-11, 2006