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Krabbe
Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Globoid cell leukodystrophy (GLD)
          • Synonyms

            • Krabbe disease
          • Definitions

            • Progressive autosomal recessive degenerative leukodystrophy of central (CNS) and peripheral (PNS) nervous systems

          IMAGING

          • General Features

            • CT Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Gupta A et al: Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. Neuroimage Clin. 7:792-8, 2015
                                        2. Zuccoli G et al: Midbrain morphology reflects extent of brain damage in Krabbe disease. Neuroradiology. ePub, 2015
                                        3. Ahmed RM et al: A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry. 85(7):770-81, 2014
                                        4. Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
                                        5. Liao P et al: Phenotypic variability of krabbe disease across the lifespan. Can J Neurol Sci. 41(1):5-12, 2014
                                        6. Poretti A et al: Novel diffusion tensor imaging findings in Krabbe disease. Eur J Paediatr Neurol. 18(2):150-6, 2014
                                        7. Reddy AS et al: Central nervous system pathology progresses independently of KC and CXCR2 in globoid-cell leukodystrophy. PLoS One. 8(6):e64647, 2014
                                        8. Udow S et al: Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease. Pediatr Neurol. 47(4):299-302, 2012
                                        9. Duffner PK et al: Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 40(4):245-52; discussion 253-5, 2009
                                        10. Beslow LA et al: Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease. Pediatr Radiol. 38(6):694-6, 2008
                                        11. Patel B et al: Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls. Pediatr Radiol. 38(6):697-9, 2008
                                        12. Wang C et al: The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease. Acta Neurol Scand. 116(4):268-72, 2007
                                        13. McGraw P et al: Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements--initial experience. Radiology. 236(1):221-30, 2005
                                        Related Anatomy
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Globoid cell leukodystrophy (GLD)
                                                • Synonyms

                                                  • Krabbe disease
                                                • Definitions

                                                  • Progressive autosomal recessive degenerative leukodystrophy of central (CNS) and peripheral (PNS) nervous systems

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • MR Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Staging, Grading, & Classification

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Gupta A et al: Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. Neuroimage Clin. 7:792-8, 2015
                                                                              2. Zuccoli G et al: Midbrain morphology reflects extent of brain damage in Krabbe disease. Neuroradiology. ePub, 2015
                                                                              3. Ahmed RM et al: A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry. 85(7):770-81, 2014
                                                                              4. Krishna SH et al: Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders. Semin Ultrasound CT MR. 35(2):160-91, 2014
                                                                              5. Liao P et al: Phenotypic variability of krabbe disease across the lifespan. Can J Neurol Sci. 41(1):5-12, 2014
                                                                              6. Poretti A et al: Novel diffusion tensor imaging findings in Krabbe disease. Eur J Paediatr Neurol. 18(2):150-6, 2014
                                                                              7. Reddy AS et al: Central nervous system pathology progresses independently of KC and CXCR2 in globoid-cell leukodystrophy. PLoS One. 8(6):e64647, 2014
                                                                              8. Udow S et al: Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease. Pediatr Neurol. 47(4):299-302, 2012
                                                                              9. Duffner PK et al: Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 40(4):245-52; discussion 253-5, 2009
                                                                              10. Beslow LA et al: Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease. Pediatr Radiol. 38(6):694-6, 2008
                                                                              11. Patel B et al: Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls. Pediatr Radiol. 38(6):697-9, 2008
                                                                              12. Wang C et al: The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease. Acta Neurol Scand. 116(4):268-72, 2007
                                                                              13. McGraw P et al: Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements--initial experience. Radiology. 236(1):221-30, 2005