INFANTILE TYPE OF SO-CALLED NEURONAL CEROID-LIPOFUSCINOSIS - HISTOLOGICAL AND ELECTRON-MICROSCOPIC STUDIES
INFANTILE TYPE OF SO-CALLED NEURONAL CEROID-LIPOFUSCINOSIS - HISTOLOGICAL AND ELECTRON-MICROSCOPIC STUDIES
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DOI：
10.1007/bf00697751
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发表时间：
1973-01-01
影响因子：
12.7
通讯作者：
SANTAVUORI, P
中科院分区：
文献类型：
--
作者：
HALTIA, M;RAPOLA, J;SANTAVUORI, P
尸检报告提出了三例快速进展性脑病，临床发病约1岁，早期黑朦，小头畸形。抽搐很少或没有。由于大脑和小脑皮层的神经元完全丧失，以及大多数皮层下中心的高级神经元破坏，这种疾病导致了严重程度的脑萎缩。Betz巨细胞和初级运动神经元和感觉神经元是明显的例外。存活的神经元、其他神经外胚层细胞和一些神经外细胞类型显示在其细胞质中积累了耐脂质溶剂的自身荧光嗜苏丹颗粒。超微结构上，这些颗粒为残体型，由直径0.2 ~ 0.5 μm的球形球团组成，内部结构均匀，呈细粒状。这些病变与明显的星形细胞和间充质反应有关，在中枢神经系统灰质中存在大量吞噬细胞，在较小程度上，在其他组织中也存在大量吞噬细胞。此外，脑髓磷脂几乎全部丢失，显然是由于沃勒氏变性。特征性的临床、组织学和超微结构特征将此病与该年龄组的其他进行性脑病（包括后期婴儿型的Batten-Vogt综合征）区分开来。最近的超微结构和生化结果表明，我们患者的疾病与Hagberget al.（1968）所描述的伴有多不饱和脂肪代谢紊乱的进行性脑病相同。
Autopsy reports are presented of three cases of a rapidly progressive encephalopathy with clinical onset around one year of age, early amaurosis, and microcephaly. Convulsions were few or absent. The disorder led to an extraordinary degree of brain atrophy, due to total loss of neurons from the cerebral and cerebellar cortex, and an advanced degree of neuronal destruction in most subcortical centres. The giant cells of Betz and the primary motor and sensory neurons were notable exceptions. The surviving neurons, other neuroectodermal cells, and a number of extraneural cell types showed accumulation of autofluorescent sudanophilic granules, resistant to lipid solvents, in their cytoplasm. Ultrastructurally, these granules were of the residual body type, consisting of membrane-bound conglomerations of spherical globules 0.2–0.5 μm in diameter, with a homogeneous, finely granular internal structure. These lesions were associated with a pronounced astrocytic and mesenchymal reaction with the presence of large numbers of phagocytic cells in the grey matter of the CNS and, to a lesser extent, in other tissues. In addition, there was almost total loss of myelin from the brain, apparently due to Wallerian degeneration.The characteristic clinical, histological and ultrastructural features differentiate this condition from other progressive encephalopathies of the age group in question, including the late infantile type of the Batten-Vogt syndrome. Recent ultrastructural and biochemical findings indicate that the disease of our patients is identical with the progressive encephalopathy with disturbed polyunsaturated fat metabolism described by Hagberget al.(1968).