Lummus Seth, Breeze Robert, Lucia M Scott, Kleinschmidt-DeMasters Bette Kay
From the Departments of Pathology (SL, MSL, BKK-D), Neurosurgery (RB, BKK-D), and Neurology (BKK-D), The University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, Colorado.
J Neuropathol Exp Neurol. 2014 Oct;73(10):916-32. doi: 10.1097/NEN.0000000000000113.
Nonatherosclerotic cerebrovascular arteriopathies share epidemiologic and clinical features, but few studies directly compare histologic features of the intracranial vasculature. We studied 3 adult autopsy cases of fibromuscular dysplasia in patients who died of basilar artery aneurysm rupture, vertebral artery dissection, or Moyamoya syndrome. Fibromuscular dysplasia was only identified when multiple sections (optimally of the entire circle of Willis) were examined by microscopy. A fourth case of a massive subcutaneous scalp cirsoid aneurysm with classic "string-of-beads" gross appearance and microscopic medial hypertrophy was also compatible with fibromuscular dysplasia. Intracranial vascular changes were compared with those in 1 patient with Ehlers-Danlos type IV (vascular type) and in 4 patients with neurofibromatosis I. Distinct histologic features and distributions of cerebral vessel abnormalities were observed in all 3 disorders. Disordered collagen within the muscularis (identified using picrosirius red histochemistry) was confined to fibromuscular dysplasia; fibrocellular smooth muscle intimal proliferation within parenchymal cerebral arteries was confirmed using smooth muscle actin immunohistochemistry in the Moyamoya case; the patient with Ehlers-Danlos type IV showed aneurysm formation and eccentric intimal thickening of circle of Willis vessels but no obvious abnormalities of the muscularis; and neurofibromatosis I cases showed extensive leptomeningeal smaller-caliber arterial disease that particularly affected the spinal cord. Thus, cranial/intracranial artery involvement is not rare in these conditions but requires extensive sampling to identify the range of features.
非动脉粥样硬化性脑血管动脉病变具有流行病学和临床特征，但很少有研究直接比较颅内血管的组织学特征。我们研究了3例因基底动脉瘤破裂、椎动脉夹层或烟雾病综合征死亡的成人纤维肌发育不良尸检病例。只有在通过显微镜检查多个切片（最好是整个Willis环）时才能识别纤维肌发育不良。第四例巨大皮下头皮静脉曲张性动脉瘤，具有典型的“串珠样”大体外观和显微镜下的中层肥大，也符合纤维肌发育不良。将颅内血管变化与1例IV型埃勒斯-当洛综合征（血管型）患者和4例I型神经纤维瘤病患者的变化进行了比较。在所有这3种疾病中均观察到明显的组织学特征和脑血管异常分布。肌层内紊乱的胶原（使用苦味酸天狼星红组织化学鉴定）仅限于纤维肌发育不良；在烟雾病病例中，使用平滑肌肌动蛋白免疫组织化学证实了实质脑动脉内纤维细胞性平滑肌内膜增生；IV型埃勒斯-当洛综合征患者显示动脉瘤形成和Willis环血管的偏心内膜增厚，但肌层无明显异常；I型神经纤维瘤病病例显示广泛的软脑膜小口径动脉疾病，尤其影响脊髓。因此，在这些情况下，颅/颅内动脉受累并不罕见，但需要广泛取样以确定特征范围。
