Vanhanen S L, Raininko R, Santavuori P, Autti T, Haltia M
Department of Child Neurology, University of Helsinki, Finland.
J Child Neurol. 1995 Nov;10(6):438-43. doi: 10.1177/088307389501000603.
The purpose of this study was to correlate postmortem magnetic resonance imaging (MRI) with histopathologic findings in brains of a series of autopsied patients with infantile neuronal ceroid-lipofuscinosis, a recessively inherited progressive encephalopathy. Eight formalin-fixed brains (age range at death, 7 to 13 years) were examined with MRI. One patient had also undergone brain MRI 2 years before death. Histopathologic analyses were made from standard areas selected on the basis of the MRI scans. Postmortem MRI findings did not differ significantly from the findings in the patient who was also examined during life. Typical findings were extreme cerebral atrophy and hypointensity of the gray-matter structures in relation to the white matter on T2-weighted images, a pattern the reverse of normal. Characteristic histologic findings were almost complete loss of cortical neurons and secondary loss of axons and myelin sheaths in the white matter. The drastically altered relative intensities of the gray- and white-matter structures on the MRI scans reflected replacement of the neurons with hypertrophic astrocytes and/or macrophages filled with storage material.
本研究的目的是将一系列患有婴儿神经元蜡样脂褐质沉积症（一种隐性遗传的进行性脑病）的尸检患者大脑中的死后磁共振成像（MRI）与组织病理学发现相关联。对8个福尔马林固定的大脑（死亡时年龄范围为7至13岁）进行了MRI检查。一名患者在死亡前2年也接受过脑部MRI检查。基于MRI扫描选择标准区域进行组织病理学分析。死后MRI结果与生前也接受检查的患者的结果无显著差异。典型表现为极度脑萎缩以及在T2加权图像上灰质结构相对于白质呈低信号，这一模式与正常情况相反。特征性组织学发现为皮质神经元几乎完全丧失以及白质中轴突和髓鞘继发性丧失。MRI扫描上灰质和白质结构相对强度的显著改变反映了神经元被充满储存物质的肥大星形胶质细胞和/或巨噬细胞所替代。
