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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 CNS and peripheral nervous system (PNS)
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
- Andriescu EC et al: Teaching NeuroImages: infantile-onset Krabbe disease with tigroid appearance of the white matter. Neurology. 94(18):e1964-65, 2020
- Küpper H et al: Enlargement of peripheral nerves in Krabbe disease: the diagnostic value of nerve ultrasound. Muscle Nerve. 61(4):E24-7, 2020
- Quintas-Neves M et al: Sixth cranial nerve involvement in early onset Krabbe disease. Neuropediatrics. ePub, 2020
- 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
- Suzuki K: Globoid cell leukodystrophy (Krabbe's disease): update. J Child Neurol. 18(9):595-603, 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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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 CNS and peripheral nervous system (PNS)
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
- Andriescu EC et al: Teaching NeuroImages: infantile-onset Krabbe disease with tigroid appearance of the white matter. Neurology. 94(18):e1964-65, 2020
- Küpper H et al: Enlargement of peripheral nerves in Krabbe disease: the diagnostic value of nerve ultrasound. Muscle Nerve. 61(4):E24-7, 2020
- Quintas-Neves M et al: Sixth cranial nerve involvement in early onset Krabbe disease. Neuropediatrics. ePub, 2020
- 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
- Suzuki K: Globoid cell leukodystrophy (Krabbe's disease): update. J Child Neurol. 18(9):595-603, 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
