Martin J J, Libert J, Ceuterick C
Laboratory of Neuropathology, Born-Bunge Foundation, Belgium.
Clin Neuropathol. 1987 Nov-Dec;6(6):231-5.
A patient with Kufs' disease (adult type-neuronal ceroid-lipofuscinosis) is reported. He was the brother of the index case reported by Dom et al. [1979]. The diagnosis had been made by skin and skeletal muscle biopsies. The postmortem study of the brain confirmed the diagnosis and revealed a diffuse intraneuronal storage of membrane-bound inclusions with curvilinear, rectilinear and fingerprint profiles. Neurons from the frontal grey matter, the thalamic nuclei, the cerebellar cortex, the dentate nucleus, the substantia nigra and the anterior horns contained such inclusions, as demonstrated by electron microscopy. Because some light microscopic changes had been described in the retina of the brother, a complete ultrastructural examination of the eye was carried out in our patient. Except for signs of storage in the oculomotor muscles and in the smooth muscle cells of the ciliary body, the only ocular signs of storage were found in the retinal ganglion cells. Some of the latter contained inclusions which were quite analogous to the ones found in the neurons of the central nervous system. The pigmented epithelium, the photoreceptors and all the other retinal layers were normal. It is necessary to perform neurophysiological and electron microscopic studies at the retinal level to help clarify the confusion between the protracted and adult types of ceroid-lipofuscinosis since they may chronologically overlap.
本文报道了一名患有库夫斯病（成人型 - 神经元蜡样脂褐质沉积症）的患者。他是多姆等人[1979年]报道的首例患者的兄弟。诊断通过皮肤和骨骼肌活检做出。对大脑的尸检研究证实了诊断，并揭示了神经元内弥漫性存在膜结合包涵体，其具有曲线形、直线形和指纹状形态。电子显微镜显示，额叶灰质、丘脑核、小脑皮质、齿状核、黑质和前角的神经元含有此类包涵体。由于该患者兄弟的视网膜已被描述存在一些光学显微镜下的变化，因此对我们这位患者的眼睛进行了完整的超微结构检查。除了动眼肌和睫状体平滑肌细胞有储存迹象外，唯一的眼部储存迹象见于视网膜神经节细胞。其中一些细胞含有与中枢神经系统神经元中发现的包涵体非常相似的包涵体。色素上皮、光感受器和所有其他视网膜层均正常。有必要在视网膜层面进行神经生理学和电子显微镜研究，以帮助厘清迟发型和成人型蜡样脂褐质沉积症之间的混淆，因为它们在时间上可能会重叠。
