Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Rajvi N Thakkar; Drashti Patel; Ivelina P. Kioutchoukova; Raja Al-Bahou; Pranith Reddy; Devon T. Foster; Brandon Lucke-Wold

doi:10.20944/preprints202311.0105.v1

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preprints.org > medicine and pharmacology > neuroscience and neurology > doi: 10.20944/preprints202311.0105.v1

Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas

Rajvi N Thakkar

Drashti Patel

Ivelina P. Kioutchoukova

Version 1 : Received: 1 November 2023 / Approved: 1 November 2023 / Online: 2 November 2023 (08:20:34 CET)

A peer-reviewed article of this Preprint also exists.

Thakkar, R.N.; Patel, D.; Kioutchoukova, I.P.; Al-Bahou, R.; Reddy, P.; Foster, D.T.; Lucke-Wold, B. Leukodystrophy Imaging: Insights for Diagnostic Dilemmas. Med. Sci. 2024, 12, 7. Thakkar, R.N.; Patel, D.; Kioutchoukova, I.P.; Al-Bahou, R.; Reddy, P.; Foster, D.T.; Lucke-Wold, B. Leukodystrophy Imaging: Insights for Diagnostic Dilemmas. Med. Sci. 2024, 12, 7.

Abstract

Leukodystrophies, also known as demyelinating diseases, 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 imaging findings for each leukodystrophy, associated genetics, blood work that can help differentiate, emerging diagnostics, and 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.

Keywords

Leukodystrophies; Demyelinating disorders; Magnetic Resonance Imaging; Myelin Imaging; White matter disorders

Subject

Medicine and Pharmacology, Neuroscience and Neurology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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