New subform of the late infantile form of neuronal ceroid lipofuscinosis.
New subform of the late infantile form of neuronal ceroid lipofuscinosis.
复制标题
神经元蜡质脂褐质沉积症婴儿晚期形式的新亚型。
DOI：
10.1055/s-2008-1071534
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发表时间：
1993
期刊：
影响因子：
1.4
通讯作者：
Konkol,RJ
中科院分区：
文献类型：
--
作者：
Wisniewski,KE;Kida,E;Connell,F;Elleder,M;Eviatar,L;Konkol,RJ
本文报道了9例患有Jansky-Bielschowsky病或晚期婴儿神经性神经样脂褐质病（LINCL）的儿童的临床病理研究。这种亚型的发病年龄在2.5-3.5岁之间，最初的神经症状是由小脑和锥体外系体征引起的运动技能异常。痴呆后不久，就会出现肌阵挛性发作。在5、6岁以后，视力障碍更为明显。皮肤和/或肉色被毛的超微结构研究显示丰富的曲线谱溶酶体储存，很少与指纹谱混合。7例头部MRI显示脑室扩大，继发于基底节区萎缩，并伴有小脑和脑萎缩。7例患者中有4例（病例1、5、6、8）可见深部白质异常，表现为额顶叶脑室周围、内囊、脑干径迹和小脑白质的t2加权成像信号增高。在3例（7-9号）的死后神经病理学研究中也观察到这些异常。病例7和病例9未行MRI检查。电生理异常（EEG， ERG， VER）与经典LINCL相似。9例患者中3例的神经病理学检查显示全身性脑萎缩，基底节区、脑干、齿状核中有独特类型的神经元胞质包涵体，大脑皮层中也有少见。这些大而圆的神经元胞质包涵体在苏木精（HE）染色中呈粉红色，甲酚紫染色为紫色，kl<s:1> ver- barrera染色为深蓝色。它们未被ConA染色，并且明显变化，从阴性到苏丹BB强阳性。这些溶酶体包涵体呈异常密集的曲线状，在某些细胞中形成大的聚集体，几乎完全填满神经元细胞质。然而，其他灰质区域的神经元显示松散排列的曲线轮廓，这些曲线轮廓被单膜包围，有时与指纹轮廓混杂在一起，与经典的LINCL病例相似。小脑表现出异常严重的萎缩。这种新的Jansky-Bielschowsky病变体强调了这种特殊亚型linl的异质性。需要进一步的生化和遗传学研究来更好地定义NCL病例的这些不同亚型。
Clinicopathological studies of a series of nine children with a new subform of Jansky-Bielschowsky disease or late infantile neuronal ceroid lipofuscinosis (LINCL) is presented. The onset of this subform is between 2.5-3.5 years of age with initial neurological symptoms of abnormal motor skills caused by cerebellar and extrapyramidal signs. Soon after dementia, myoclonic seizures are followed. Visual impairment is more clearly seen after the age of 5 or 6 years. The ultrastructural studies of the skin and/or buffy coat showed abundant lysosomal storage of curvilinear profiles, rarely intermixed with fingerprint profiles. The MRI of the head performed in seven cases, showed initially enlargement of the ventricles that is secondary to basal ganglia atrophy and presence of cerebellar and cerebral atrophy. In 4 of 7 cases (Cases 1, 5, 6, 8) abnormalities in the deep white matter showing increased signals of T2-weighted imaging in the periventricular areas of the fronto-parietal region, internal capsule, tracks of the brainstem, and white matter of cerebellum were seen. These abnormalities were also observed by post-mortem neuropathological studies in three cases (nos. 7-9). The MRI in Cases 7 and 9 was not performed. The electrophysiological abnormalities (EEG, ERG, VER) are similar as described in the classical LINCL. Neuropathological studies done in 3 of 9 cases showed generalized brain atrophy and unique type of neuronal cytoplasmic inclusion body in the basal ganglia, brainstem, dentate nuclei, and rarely, cerebral cortex. These large, round neuronal cytoplasmic inclusions were pink in hematoxylin (HE), violet in cresyl violet, and dark blue with Klüver-Barrera method. They were unstained with ConA and distinctly varied ranging from negative to strong positive with Sudan BB. These lysosomal inclusions correspond to unusually densely packed curvilinear profiles which in some cells formed large aggregates almost entirely filling the neuronal cytoplasm. Neurons of other grey matter regions, however, showed loosely arranged curvilinear profiles that were surrounded by single membranes and sometimes intermixed with fingerprint profiles, similar as described in the classical LINCL cases. The cerebellum showed unusually severe atrophy. This new variant of Jansky-Bielschowsky disease stresses the heterogeneity within this particular subform of LINCL. Further biochemical and genetic studies are needed to better define these different subforms of NCL cases.