Becker K, Goebel H H, Svennerholm L, Wendel U, Bremer H J
Eur J Pediatr. 1979 Nov;132(3):197-206. doi: 10.1007/BF00442436.
A patient with a progressive neurological disorder beginning at the age of three years is described. Mental and visual disturbances were the first signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant; polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroid-lipofuscinosis is briefly discussed.
本文描述了一名三岁起病的进行性神经疾病患者。精神和视觉障碍是首发症状，随后很快出现共济失调和肌阵挛性抽搐。眼底检查显示视网膜色素沉着减少。对肌肉和皮肤的超微结构研究揭示了在晚期婴儿型和青少年型神经元蜡样脂褐质沉积症中所见的典型变化。与临床和超微结构发现相反，血清卵磷脂的脂肪酸模式显示花生四烯酸显著增加，亚油酸相应减少，这是所谓婴儿型神经元蜡样脂褐质沉积症（哈格伯格 - 桑塔沃里变异型；多不饱和脂肪酸脂质沉积症）的特征。文中简要讨论了神经元蜡样脂褐质沉积症各亚组中临床、组织学和实验室检查结果明显的异质性。
