MRI of neuronal ceroid lipofuscinosis
MRI of neuronal ceroid lipofuscinosis
复制标题
神经元蜡质脂褐质沉积症的MRI
作者：
T. Autti;T. Autti;R. Raininko;S. Vanhanen;P. Santavuori
我们研究了30例青少年神经元蜡样质脂褐质沉积症（JNCL）。患者（年龄6-25岁）和43名年龄匹配的健康志愿者接受了MRI检查。视觉评估后，在T2加权图像上测量许多位置的信号强度。测量皮质和胼胝体厚度以及脑干的尺寸。30例患者中有14例发现轻度至中度脑萎缩，其中大多数年龄超过14岁; 5例老年患者有轻度至中度小脑萎缩。胼胝体和脑干体积缩小。丘脑、尾状核和壳核分别在7岁、11岁和11岁时出现低信号。相比之下，这些患者的丘脑测量的信号强度与对照组相比仅显示轻微（不显著）降低。最显著的改变，测量信号强度的增加，发现在白色物质（P<0.0001），即使在最年轻的患者。MRI结果与智力下降、言语障碍和运动问题显著相关。尽管JNCL的MRI表现并不非常特异，而且视觉变化发展相对较晚，但在疾病的早期阶段缺乏病理性MRI表现可能在不同类型NCL的鉴别诊断中发挥作用。此外，MRI结果可用于评估严重程度和预后，特别是在年轻患者中。
We studied 30 patients with juvenile neuronal ceroid lipofuscinosis (JNCL). The patients (aged 6–25 years) and 43 age-matched healthy volunteers underwent MRI. After visual assessment, the signal intensity was measured on T2-weighted images in numerous locations. The thickness of the cortex and corpus callosum and the dimensions of the brain stem were measured. Mild to moderate cerebral atrophy was found in 14 of 30 patients, most of them over 14 years of age; 5 older patients had mild to moderate cerebellar atrophy. There was reduction in the size of the corpus callosum and brain stem. The thalamus, caudate nucleus and putamen appeared to give low signal in patients from the ages of 7, 11 and 11 years, respectively. In contrast, the signal intensity measured from the thalamus in these patients showed only a slight (insignificant) decrease compared with controls. The most significant alteration, an increase in measured signal intensity, was found in the white matter (P<0.0001), even in the youngest patients. The MRI findings correlated significantly with decreased intelligence, speech disturbances and motor problems. Although MRI findings in JNCL do not appear very specific and the visual changes develop relatively late, the absence of pathological MRI findings in the very early stage of the disease may play a part in differential diagnosis of the different types of NCL. Furthermore, the MRI findings may be used in assessing severity and prognosis, particularly in young patients.
神经元蜡质脂褐质沉积症婴儿晚期形式的新亚型。
影响因子：
1.4
作者：
Wisniewski,KE;Kida,E;Connell,F;Elleder,M;Eviatar,L;Konkol,RJ
通讯作者：
Konkol,RJ
神经元蜡样质脂褐质沉积症亚型的临床分类。
DOI：
10.1002/ajmg.1320310608
发表时间：
1988
期刊：
American journal of medical genetics. Supplement
影响因子：
--
作者：
Boustany,RM;Alroy,J;Kolodny,EH
通讯作者：
Kolodny,EH