Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam and Amsterdam Neuroscience, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
Department of Epidemiology and Data Science, and Amsterdam School of Public Health, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Neuroradiology. 2023 Apr;65(4):855-863. doi: 10.1007/s00234-022-03097-3. Epub 2022 Dec 27.
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.
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.
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 (χ(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.
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.
患有脑白质消失（VWM）的患者会经历持续不断的慢性神经衰退，以及由压力引起的快速、部分可逆衰退发作。大脑白质异常是进行性的，没有改善，因此不太可能与发作有关。我们确定了哪些影像学发现与发作性衰退有关。
对 VWM 患者的 MRI 扫描进行回顾性分析。患者分为 A 组（从未发作）和 B 组（发作）。脑白质外的信号异常被评为无、轻度或重度。仅在 B 组中出现的异常建立了一个总和评分。通过将扫描分为发作前、发作后不到 3 个月和发作后 3 个月以上来确定信号异常与发作之间的时间关系。
分析了 298 名患者的 543 次检查。尾状核、壳核、苍白球、丘脑、中脑、延髓和脑桥的轻度和重度信号异常仅在 B 组中出现。用这些异常构建的总和评分取决于扫描的时间（χ²(2, 400) = 22.8; p < 0.001）：发作前异常最少，发作后最高值时最常异常，发作后 3 个月以上时异常较低。
在 VWM 中，脑干、丘脑和基底节的信号异常与发作性衰退有关，并且可以改善。了解 VWM 中自然 MRI 病史对于临床解释 MRI 发现以及在治疗试验中至关重要。
