Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Med Sci (Basel)
; 12(1)2024 Jan 25.
Article
in En
| MEDLINE
| ID: mdl-38390857
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Adrenoleukodystrophy
/
Neurodegenerative Diseases
/
Pelizaeus-Merzbacher Disease
/
Leukodystrophy, Globoid Cell
/
Leukodystrophy, Metachromatic
Limits:
Humans
Language:
En
Journal:
Med Sci (Basel)
Year:
2024
Document type:
Article
Affiliation country:
United States