Radiological correlates of episodes of acute decline in the leukodystrophy vanishing white matter

Menno D. Stellingwerff, Mark A. van de Wiel, Marjo S. van der Knaap*

*Corresponding author for this work

Research output: Contribution to JournalArticleAcademicpeer-review

Abstract

Purpose: Patients with vanishing white matter (VWM) experience unremitting chronic neurological decline and stress-provoked episodes of rapid, partially reversible decline. Cerebral white matter abnormalities are progressive, without improvement, and are therefore unlikely to be related to the episodes. We determined which radiological findings are related to episodic decline. Methods: MRI scans of VWM patients were retrospectively analyzed. Patients were grouped into A (never episodes) and B (episodes). Signal abnormalities outside the cerebral white matter were rated as absent, mild, or severe. A sum score was developed with abnormalities only seen in group B. The temporal relationship between signal abnormalities and episodes was determined by subdividing scans into those made before, less than 3 months after, and more than 3 months after onset of an episode. Results: Five hundred forty-three examinations of 298 patients were analyzed. Mild and severe signal abnormalities in the caudate nucleus, putamen, globus pallidus, thalamus, midbrain, medulla oblongata, and severe signal abnormalities in the pons were only seen in group B. The sum score, constructed with these abnormalities, depended on the timing of the scan (χ2(2, 400) = 22.8; p <.001): it was least often abnormal before, most often abnormal with the highest value shortly after, and lower longer than 3 months after an episode. Conclusion: In VWM, signal abnormalities in brainstem, thalamus, and basal ganglia are related to episodic decline and can improve. Knowledge of the natural MRI history in VWM is important for clinical interpretation of MRI findings and crucial in therapy trials.

Original languageEnglish
Pages (from-to)855-863
Number of pages9
JournalNeuroradiology
Volume65
Issue number4
Early online date27 Dec 2022
DOIs
Publication statusPublished - Apr 2023

Bibliographical note

Funding Information:
MSvdK receives research funding from NWO (Spinoza award), ZonMw (TOP 91217006 and 10140261910004/80–86600-98–84001), Hersenstichting (DR-2019–00285), and European Leukodystrophy Foundation (2019-P001 and 2020-017I2). She has a patent P112686CA00, therapeutic effects of Guanabenz treatment in vanishing white matter, pending to VU University Medical Center. MDS and MAvdW declare no competing interests.

Publisher Copyright:
© 2022, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Funding

MSvdK receives research funding from NWO (Spinoza award), ZonMw (TOP 91217006 and 10140261910004/80–86600-98–84001), Hersenstichting (DR-2019–00285), and European Leukodystrophy Foundation (2019-P001 and 2020-017I2). She has a patent P112686CA00, therapeutic effects of Guanabenz treatment in vanishing white matter, pending to VU University Medical Center. MDS and MAvdW declare no competing interests.

FundersFunder number
European Leukodystrophy Foundation2019-P001, 2020-017I2
ZonMwTOP 91217006, 10140261910004/80–86600-98–84001, DR-2019–00285
ZonMw
Nederlandse Organisatie voor Wetenschappelijk Onderzoek

    Keywords

    • Basal ganglia
    • Brainstem
    • Leukodystrophy
    • MRI
    • Thalamus
    • Vanishing white matter

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