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
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
Wright MD et al: Developmental outcomes of cord blood transplantation for Krabbe disease: a 15-year study. Neurology. 89(13):1365-72, 2017
Hwang M et al: Thickening of the cauda equina roots: a common finding in Krabbe disease. Eur Radiol. 26(10):3377-82, 2016
Poretti A et al: Diffusion tensor imaging: a biomarker of outcome in Krabbe's disease. J Neurosci Res. 94(11):1108-15, 2016
Gupta A et al: Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. Neuroimage Clin. 7:792-8, 2015
Zuccoli G et al: Midbrain morphology reflects extent of brain damage in Krabbe disease. Neuroradiology. 57(7):739-45, 2015
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
Liao P et al: Phenotypic variability of krabbe disease across the lifespan. Can J Neurol Sci. 41(1):5-12, 2014
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
Duffner PK et al: Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 40(4):245-52; discussion 253-5, 2009
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
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
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
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
Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
Haq E et al: Molecular mechanism of psychosine-induced cell death in human oligodendrocyte cell line. J Neurochem. 86(6):1428-40, 2003
Henderson RD et al: Adult onset Krabbe disease may mimic motor neurone disease. J Clin Neurosci. 10(5):638-9, 2003
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
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
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
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
Farina L et al: MR imaging and proton MR spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol. 21(8):1478-82, 2000
Jones BV et al: Optic nerve enlargement in Krabbe's disease. AJNR Am J Neuroradiol. 20(7):1228-31, 1999
Vasconcellos E et al: MRI nerve root enhancement in Krabbe disease. Pediatr Neurol. 19(2):151-2, 1998
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
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
Wright MD et al: Developmental outcomes of cord blood transplantation for Krabbe disease: a 15-year study. Neurology. 89(13):1365-72, 2017
Hwang M et al: Thickening of the cauda equina roots: a common finding in Krabbe disease. Eur Radiol. 26(10):3377-82, 2016
Poretti A et al: Diffusion tensor imaging: a biomarker of outcome in Krabbe's disease. J Neurosci Res. 94(11):1108-15, 2016
Gupta A et al: Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. Neuroimage Clin. 7:792-8, 2015
Zuccoli G et al: Midbrain morphology reflects extent of brain damage in Krabbe disease. Neuroradiology. 57(7):739-45, 2015
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
Liao P et al: Phenotypic variability of krabbe disease across the lifespan. Can J Neurol Sci. 41(1):5-12, 2014
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
Duffner PK et al: Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 40(4):245-52; discussion 253-5, 2009
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
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
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
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
Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
Haq E et al: Molecular mechanism of psychosine-induced cell death in human oligodendrocyte cell line. J Neurochem. 86(6):1428-40, 2003
Henderson RD et al: Adult onset Krabbe disease may mimic motor neurone disease. J Clin Neurosci. 10(5):638-9, 2003
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
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
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
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
Farina L et al: MR imaging and proton MR spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol. 21(8):1478-82, 2000
Jones BV et al: Optic nerve enlargement in Krabbe's disease. AJNR Am J Neuroradiol. 20(7):1228-31, 1999
Vasconcellos E et al: MRI nerve root enhancement in Krabbe disease. Pediatr Neurol. 19(2):151-2, 1998
Zafeiriou DI et al: Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. Brain Dev. 19(7):488-91, 1997
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