Artikel ; Online: Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Medical sciences (Basel, Switzerland)
2024 Band 12, Heft 1
Abstract: Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These ... ...
Abstract | Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical presentation of different types of leukodystrophies can be nonspecific, and thus, imaging techniques like MRI can be used for a more definitive diagnosis. These diseases are characterized as cerebral lesions with characteristic demyelinating patterns which can be used as differentiating tools. In this review, we talk about these MRI study findings for each leukodystrophy, associated genetics, blood work that can help in differentiation, emerging diagnostics, and a follow-up imaging strategy. The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeus-Merzbacher disease, Alexander's disease, Canavan disease, and Aicardi-Goutières Syndrome. |
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Mesh-Begriff(e) | Humans ; Leukodystrophy, Metachromatic/diagnostic imaging ; Leukodystrophy, Metachromatic/pathology ; Leukodystrophy, Globoid Cell/diagnostic imaging ; Leukodystrophy, Globoid Cell/pathology ; Adrenoleukodystrophy/diagnostic imaging ; Adrenoleukodystrophy/genetics ; Neurodegenerative Diseases ; Pelizaeus-Merzbacher Disease |
Sprache | Englisch |
Erscheinungsdatum | 2024-01-25 |
Erscheinungsland | Switzerland |
Dokumenttyp | Journal Article ; Review |
ZDB-ID | 2754473-4 |
ISSN | 2076-3271 ; 2076-3271 |
ISSN (online) | 2076-3271 |
ISSN | 2076-3271 |
DOI | 10.3390/medsci12010007 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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