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Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
- Source :
- Neurology, Neurology, 2019, 93 (7), pp.e647-e652. ⟨10.1212/WNL.0000000000007943⟩, Neurology 93(7), e647-e652 (2019). doi:10.1212/WNL.0000000000007943
- Publication Year :
- 2019
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2019.
-
Abstract
- ObjectiveTo perform a systematic analysis and scoring of brain MRI white matter hyperintensities (WMH) in adult-onset Krabbe disease.MethodsWe retrospectively collected basic clinical data and the first available brain MRI from patients with confirmed Krabbe disease with first clinical manifestations beyond 10 years of age. Data were obtained from our reference center for lysosomal diseases (n = 6) and from contacted authors of published articles describing patients with adult-onset Krabbe disease (n = 15). T2-weighted fluid-attenuated inversion recovery images of each patient were analyzed and scored using a radiologic score of WMH in a single center.ResultsThe corticospinal tract was always affected by WMH (100% of patients), however, with some distinctions along the tract: the precentral gyrus (100%), corona radiata (95%), and posterior internal capsule (81%) were highly abnormal, whereas the mesencephalon (57%), pons (52%), and medulla oblongata (5%) were less affected. WMH were also frequently present in the posterior lateral periventricular white matter (95%), optic radiations (86%), postcentral gyrus (71%), medial lemniscus (62%), and corpus callosum, especially in the isthmus (71%), whereas the genu was always normal. A few patients did not have the classical MRI pattern but extensive hyperintensities (n = 3), or patchy distribution of hyperintensities mimicking an acquired etiology (n = 2), or very subtle hyperintensities of the corticospinal tract (n = 1).ConclusionsWe specified the main locations of WMH, which were observed in the earliest stages of the disease and were also present in patients with atypical MRI pattern, highlighting the importance of radiologic features to guide the diagnosis.
- Subjects :
- Male
0301 basic medicine
Internal capsule
pathology [Pyramidal Tracts]
Pyramidal Tracts
030105 genetics & heredity
Corpus callosum
Corpus Callosum
methods [Magnetic Resonance Imaging]
0302 clinical medicine
Internal Capsule
pathology [White Matter]
Age of Onset
Child
Brain
Middle Aged
Magnetic Resonance Imaging
White Matter
pathology [Corpus Callosum]
pathology [Internal Capsule]
Female
pathology [Leukodystrophy, Globoid Cell]
Radiology
Adult
medicine.medical_specialty
Adolescent
diagnostic imaging [Leukodystrophy, Globoid Cell]
Young Adult
03 medical and health sciences
Corona radiata
medicine
Humans
ddc:610
diagnostic imaging [Brain]
Aged
business.industry
Leukodystrophy
Precentral gyrus
medicine.disease
Hyperintensity
Leukodystrophy, Globoid Cell
Corticospinal tract
Krabbe disease
Neurology (clinical)
pathology [Demyelinating Diseases]
business
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
030217 neurology & neurosurgery
Demyelinating Diseases
Subjects
Details
- ISSN :
- 1526632X and 00283878
- Volume :
- 93
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....532b8fb1a9d42ce9e3758c5b41e810e2