Background

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a progressive neurodegenerative disorder with stroke-like lesions. The common MRI findings are gyral swelling and high signal intensity on T2WI/FLAIR images crossing the vascular territories. We have observed a linear cystic lesion and a laminar necrosis in the affected cortices of MELAS patients. Herein, we evaluated these cortical MRI findings in each subtype of mitochondrial disease.

Patients and methods

We retrospectively reviewed the MRI findings of 71 consecutive patients with clinically and genetically confirmed mitochondrial diseases. The cortical cystic lesions and laminar necrotic lesions were evaluated on T1, T2, and FLAIR images in each subtype of mitochondrial disease, as were their clinical and other imaging characteristics.

Results

The cortical cystic lesion was observed in 21 of the 71 patients (29.6%) with mitochondrial diseases. Laminar necrosis was detected in only three patients (4.2%). MELAS was the most frequent subtype with cortical cystic lesions, accounting for 81.0%, and all showed the linear pattern except for one patient whose pattern was beaded-like.

Conclusion

A cortical linear cystic lesion was a common MRI finding in our series of patients with mitochondrial disease, especially in those with MELAS, but laminar necrosis was not. These findings can help differentiate MELAS from infarction.

中文翻译：

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线性皮质囊性病变：MELAS 患者的特征性 MR 发现

背景

线粒体肌病、脑病、乳酸性酸中毒和中风样发作 (MELAS) 是一种具有中风样病变的进行性神经退行性疾病。常见的 MRI 发现是在穿过血管区域的 T2WI/FLAIR 图像上出现脑回肿胀和高信号强度。我们在 MELAS 患者的受影响皮质中观察到线性囊性病变和层状坏死。在这里，我们在线粒体疾病的每个亚型中评估了这些皮质 MRI 发现。

患者和方法

我们回顾性地回顾了 71 例临床和基因证实的线粒体疾病的连续患者的 MRI 结果。在每个线粒体疾病亚型的 T1、T2 和 FLAIR 图像上评估皮质囊性病变和层状坏死病变，以及它们的临床和其他成像特征。

结果

71 例线粒体疾病患者中有 21 例（29.6%）出现皮质囊性病变。仅在 3 名患者 (4.2%) 中检测到层状坏死。MELAS是皮质囊性病变最常见的亚型，占81.0%，除1例呈串珠样外，均呈线状。

结论

在我们的一系列线粒体疾病患者中，皮质线性囊性病变是常见的 MRI 发现，特别是在 MELAS 患者中，但层状坏死不是。这些发现有助于区分 MELAS 和梗死。