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Globoid Cell Leukodystrophy
Globoid Cell Leukodystrophy
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. Bascou N et al: A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. Orphanet J Rare Dis. 13(1):126, 2018
                                        2. Wright MD et al: Developmental outcomes of cord blood transplantation for Krabbe disease: a 15-year study. Neurology. 89(13):1365-72, 2017
                                        3. Hwang M et al: Thickening of the cauda equina roots: a common finding in Krabbe disease. Eur Radiol. 26(10):3377-82, 2016
                                        4. Poretti A et al: Diffusion tensor imaging: a biomarker of outcome in Krabbe's disease. J Neurosci Res. 94(11):1108-15, 2016
                                        5. Gupta A et al: Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. Neuroimage Clin. 7:792-8, 2015
                                        6. Zuccoli G et al: Midbrain morphology reflects extent of brain damage in Krabbe disease. Neuroradiology. 57(7):739-45, 2015
                                        7. Abdelhalim AN et al: Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype. Pediatr Neurol. 50(2):127-34, 2014
                                        8. Liao P et al: Phenotypic variability of krabbe disease across the lifespan. Can J Neurol Sci. 41(1):5-12, 2014
                                        9. 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
                                        10. Duffner PK et al: Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 40(4):245-52; discussion 253-5, 2009
                                        11. 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
                                        12. 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
                                        13. 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
                                        14. 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
                                        15. Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
                                        16. Haq E et al: Molecular mechanism of psychosine-induced cell death in human oligodendrocyte cell line. J Neurochem. 86(6):1428-40, 2003
                                        17. Henderson RD et al: Adult onset Krabbe disease may mimic motor neurone disease. J Clin Neurosci. 10(5):638-9, 2003
                                        18. Suzuki K: Globoid cell leukodystrophy (Krabbe's disease): update. J Child Neurol. 18(9):595-603, 2003
                                        19. Bajaj NP et al: Adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging. J Neurol Neurosurg Psychiatry. 72(5):635-8, 2002
                                        20. Giri S et al: Galactosylsphingosine (psychosine)-induced expression of cytokine-mediated inducible nitric oxide synthases via AP-1 and C/EBP: implications for Krabbe disease. FASEB J. 16(7):661-72, 2002
                                        21. Jatana M et al: Apoptotic positive cells in Krabbe brain and induction of apoptosis in rat C6 glial cells by psychosine. Neurosci Lett. 330(2):183-7, 2002
                                        22. Guo AC et al: Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. Radiology. 218(3):809-15, 2001
                                        23. Farina L et al: MR imaging and proton MR spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol. 21(8):1478-82, 2000
                                        24. Jones BV et al: Optic nerve enlargement in Krabbe's disease. AJNR Am J Neuroradiol. 20(7):1228-31, 1999
                                        25. Vasconcellos E et al: MRI nerve root enhancement in Krabbe disease. Pediatr Neurol. 19(2):151-2, 1998
                                        26. Zafeiriou DI et al: Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. Brain Dev. 19(7):488-91, 1997
                                        Related Anatomy
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                                        Related Differential Diagnoses
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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. Bascou N et al: A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. Orphanet J Rare Dis. 13(1):126, 2018
                                                                              2. Wright MD et al: Developmental outcomes of cord blood transplantation for Krabbe disease: a 15-year study. Neurology. 89(13):1365-72, 2017
                                                                              3. Hwang M et al: Thickening of the cauda equina roots: a common finding in Krabbe disease. Eur Radiol. 26(10):3377-82, 2016
                                                                              4. Poretti A et al: Diffusion tensor imaging: a biomarker of outcome in Krabbe's disease. J Neurosci Res. 94(11):1108-15, 2016
                                                                              5. Gupta A et al: Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. Neuroimage Clin. 7:792-8, 2015
                                                                              6. Zuccoli G et al: Midbrain morphology reflects extent of brain damage in Krabbe disease. Neuroradiology. 57(7):739-45, 2015
                                                                              7. Abdelhalim AN et al: Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype. Pediatr Neurol. 50(2):127-34, 2014
                                                                              8. Liao P et al: Phenotypic variability of krabbe disease across the lifespan. Can J Neurol Sci. 41(1):5-12, 2014
                                                                              9. 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
                                                                              10. Duffner PK et al: Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 40(4):245-52; discussion 253-5, 2009
                                                                              11. 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
                                                                              12. 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
                                                                              13. 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
                                                                              14. 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
                                                                              15. Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
                                                                              16. Haq E et al: Molecular mechanism of psychosine-induced cell death in human oligodendrocyte cell line. J Neurochem. 86(6):1428-40, 2003
                                                                              17. Henderson RD et al: Adult onset Krabbe disease may mimic motor neurone disease. J Clin Neurosci. 10(5):638-9, 2003
                                                                              18. Suzuki K: Globoid cell leukodystrophy (Krabbe's disease): update. J Child Neurol. 18(9):595-603, 2003
                                                                              19. Bajaj NP et al: Adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging. J Neurol Neurosurg Psychiatry. 72(5):635-8, 2002
                                                                              20. Giri S et al: Galactosylsphingosine (psychosine)-induced expression of cytokine-mediated inducible nitric oxide synthases via AP-1 and C/EBP: implications for Krabbe disease. FASEB J. 16(7):661-72, 2002
                                                                              21. Jatana M et al: Apoptotic positive cells in Krabbe brain and induction of apoptosis in rat C6 glial cells by psychosine. Neurosci Lett. 330(2):183-7, 2002
                                                                              22. Guo AC et al: Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. Radiology. 218(3):809-15, 2001
                                                                              23. Farina L et al: MR imaging and proton MR spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol. 21(8):1478-82, 2000
                                                                              24. Jones BV et al: Optic nerve enlargement in Krabbe's disease. AJNR Am J Neuroradiol. 20(7):1228-31, 1999
                                                                              25. Vasconcellos E et al: MRI nerve root enhancement in Krabbe disease. Pediatr Neurol. 19(2):151-2, 1998
                                                                              26. Zafeiriou DI et al: Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. Brain Dev. 19(7):488-91, 1997