Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.

Med Sci (Basel)

Department of Neurosurgery, University of Florida, 1600 SW Archer Rd., Gainesville, FL 32610, USA.

Published: January 2024

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10885080PMC
http://dx.doi.org/10.3390/medsci12010007DOI Listing

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