Bergmann M, Ebke M, Yuan Y, Brück W, Mugler M, Schwendemann G
Institute of Clinical Neuropathology, Zentralkrankenhaus Bremen-Ost, Germany.
Acta Neuropathol. 1996 Oct;92(4):341-50. doi: 10.1007/s004010050528.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by recurrent cerebral infarcts, subcortical dementia and pseudobulbar palsy, and morphologically by a granular degeneration of cerebral and, to a lesser degree, extracerebral blood vessels. We present morphological findings in a further German family affected by CADASIL. The index case showed the typical periodic acid-Schiff-positive granular degeneration of vascular smooth muscle cells (VSMC) in cerebral vessels, which did not react with antibodies against various immunoglobulins or complement factors. Ultrastructurally, granular osmiophilic material (GOM) covered the VSMC in different cerebral regions as well as in extracerebral organs (muscle, nerve, skin, small and large intestine, liver, kidney and heart). Skin biopsy samples from other family members of the last two generations also revealed GOM irrespective of the clinical symptomatology (CADASIL, migraine only or asymptomatic). Patients in the third generation had higher amounts of GOM in skin vessels than did asymptomatic or migraine patients in the fourth generation. We conclude that skin biopsy is a useful and less invasive screening method for the differential diagnosis of CADASIL.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）的临床特征为反复发生脑梗死、皮质下痴呆和假性延髓麻痹，形态学特征为脑血管呈颗粒样变性，程度较轻的还有脑外血管。我们报告了另一个受CADASIL影响的德国家庭的形态学研究结果。索引病例显示脑血管中血管平滑肌细胞（VSMC）典型的过碘酸-希夫染色阳性颗粒样变性，其不与抗各种免疫球蛋白或补体因子的抗体发生反应。超微结构上，不同脑区以及脑外器官（肌肉、神经、皮肤、小肠和大肠、肝脏、肾脏和心脏）的VSMC均有嗜锇颗粒物质（GOM）覆盖。最后两代其他家庭成员的皮肤活检样本也显示有GOM，与临床症状（CADASIL、仅偏头痛或无症状）无关。第三代患者皮肤血管中的GOM含量高于第四代无症状或偏头痛患者。我们得出结论，皮肤活检是CADASIL鉴别诊断的一种有用且侵入性较小的筛查方法。
