Bovet J
Schweiz Arch Neurol Neurochir Psychiatr. 1984;134(2):305-32.
What is apparently the first reported case of neuroaxonal dystrophy associated with juvenile neurolipidosis is described. Details of the clinical evolution and the macroscopic, microscopic, histochemical and ultrastructural anatomo-pathology are given. The topographical distributions are given of the two characteristic lesions: swelling of neuronal cell bodies and swelling of axons. Biochemical and histochemical analyses were made but since the specimen had been preserved in acetone it was not possible to identify which lipids were present in excess. The case is compared to 5 somewhat similar cases in the literature.
本文描述了首例明显与青少年神经脂质沉积症相关的神经轴索性营养不良病例。文中给出了临床病程以及大体、显微镜、组织化学和超微结构解剖病理学的详细情况。还给出了两个特征性病变的分布部位：神经元细胞体肿胀和轴突肿胀。进行了生化和组织化学分析，但由于标本保存在丙酮中，无法确定哪些脂质过量存在。该病例与文献中5例有些相似的病例进行了比较。
