AIMS Sudden unexpected death in epilepsy (SUDEP) likely arises as a result of autonomic dysfunction around the time of a seizure. In vivo MRI studies report volume reduction in the medulla and other brainstem autonomic regions. Our aim, in a pathology series, is to correlate regional quantitative features on 9.4T MRI with pathology measures in medullary regions. METHODS 47 medullae from 18 SUDEP, 18 non-epilepsy controls (NEC) and 11 epilepsy controls (EPC) were studied. In 16 cases, representing all three groups, ex vivo 9.4T MRI of the brainstem was carried out. Five regions of interest (ROI) were delineated, including the reticular formation zone (RtZ), and actual and relative volumes, as well as T1, T2, T2* and MTR measurements were evaluated on MRI. On serial sections, actual and relative volume estimates using Cavalieri stereological method and immunolabelling indices for myelin basic protein, synaptophysin and Microtubule associated protein 2 (MAP2) were carried out in similar ROI. RESULTS Lower relative RtZ volumes in the rostral medulla but higher actual volumes in the caudal medulla were observed in SUDEP (p<0.05). No differences between groups for T1, T2, T2* and MTR values in any region was seen but a positive correlation between T1 values and MAP2 labelling index in RtZ (p<0.05). Significantly lower MAP2 LI were noted in the rostral medulla RtZ in epilepsy cases (p<0.05). CONCLUSIONS Rostro-caudal alterations of medullary volume in SUDEP localise with regions containing respiratory regulatory nuclei. They may represent seizure-related alterations, relevant to the pathophysiology of SUDEP.

中文翻译：

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SUDEP 髓质的 MRI 和病理学相关性：尸检研究

目的 癫痫突然意外死亡 (SUDEP) 可能是由于癫痫发作时的自主神经功能障碍引起的。体内 MRI 研究报告了髓质和其他脑干自主区域的体积减少。在病理学系列中，我们的目标是将 9.4T MRI 的区域定量特征与髓质区域的病理学测量相关联。方法研究了来自 18 个 SUDEP、18 个非癫痫对照 (NEC) 和 11 个癫痫对照 (EPC) 的 47 个髓质。在代表所有三组的 16 例中，进行了脑干的离体 9.4T MRI。描绘了五个感兴趣区域 (ROI)，包括网状形成区 (RtZ)，并在 MRI 上评估了实际和相对体积，以及 T1、T2、T2* 和 MTR 测量值。在连续部分，使用 Cavalieri 立体学方法和髓鞘碱性蛋白、突触素和微管相关蛋白 2 (MAP2) 的免疫标记指数的实际和相对体积估计在相似的 ROI 中进行。结果 SUDEP 观察到延髓头端相对 RtZ 体积较低，但尾端髓质实际体积较高 (p<0.05)。任何区域的 T1、T2、T2* 和 MTR 值组间均无差异，但 T1 值与 RtZ 中的 MAP2 标记指数呈正相关（p<0.05）。在癫痫病例中，延髓 RtZ 的 MAP2 LI 显着降低（p<0.05）。结论 SUDEP 髓质体积的 Rostro-caudal 改变定位于含有呼吸调节核的区域。它们可能代表与癫痫发作相关的改变，与 SUDEP 的病理生理学相关。