Dziewulska Dorota, Kierdaszuk Biruta
Clin Neuropathol. 2018 Nov/Dec;37(6):283-287. doi: 10.5414/NP300619.
Familial hemiplegic migraine type 1 (FHM1) due to mutations in the gene is known as functional vascular disorder with cerebellar atrophy. We describe a case of a FHM1 family in which pathological changes occurred in both brain neuroimaging and skin and muscle biopsy.
In 5 of 18 affected family members, brain MRI scans revealed hyperintense changes in the cerebral white matter. In 2 of these 5 patients, skin and muscle biopsies were performed at the interictal period of the disease and examined under light and transmission electron microscopy.
Ultrastructural examination of the biopsy samples revealed abnormal appearance of microvessels resembling oncosis. In the affected vessels, endothelial cells and myocytes/pericytes showed clear cytoplasm, distended endoplasmic reticulum, enlarged mitochondria, and numerous intracytoplasmic vesicular structures. Swollen endothelial cells often significantly narrowed vessel lumen.
CONCLUSION: The morphological changes described for the first time in FHM1 suggest that the disease may not only be a functional, but also a structural vascular disorder. We suggest that the presence of these vascular abnormalities can interfere with microcirculation causing damage to the cerebral white matter, visible in MRI scans as hyperintense changes. .
由该基因的突变引起的1型家族性偏瘫性偏头痛（FHM1）被认为是伴有小脑萎缩的功能性血管疾病。我们描述了一个FHM1家族的病例，该家族在脑影像学以及皮肤和肌肉活检中均出现了病理变化。
在18名受影响的家庭成员中的5名中，脑部MRI扫描显示脑白质有高信号变化。在这5名患者中的2名中，在疾病的发作间期进行了皮肤和肌肉活检，并在光学显微镜和透射电子显微镜下进行检查。
活检样本的超微结构检查显示微血管出现类似肿胀坏死的异常外观。在受影响的血管中，内皮细胞和肌细胞/周细胞显示出清晰的细胞质、扩张的内质网、增大的线粒体以及大量胞浆内囊泡结构。肿胀的内皮细胞常常使血管腔显著变窄。
首次在FHM1中描述的形态学变化表明，该疾病可能不仅是一种功能性的，而且是一种结构性的血管疾病。我们认为这些血管异常的存在会干扰微循环，导致脑白质损伤，在MRI扫描中表现为高信号变化。
