Jervis G A, Donahue S
Acta Neuropathol. 1975;31(2):109-16. doi: 10.1007/BF00688145.
The case of a child is described who at the age of 2 years showed the first evidence of a developing neurological disease. Within a couple of years, profound mental retardation and severe motor deficit with spastic tetraplegia became established. No seizures and no pigmentation of the retina were observed. The condition remained practically unchanged for some 8 years and the patient died at 12 years of age of terminal bronchopneumonia. At autopsy there was conspicuous diffuse atrophy of the brain. The cerebral cortex was particularly involved. Most of the cortical neurons were destroyed and neuroglia showed abundant proliferation. The few remaining neurons contained inclusion material which was identified as lipofuscin. Noticeable cedifferences from the various types of amaurotic idiocies are noted and similarities to a case of lipidosis recently reported from Finland are suggested.
本文描述了一名儿童的病例，该儿童在2岁时首次出现神经系统疾病发展的迹象。在几年内，出现了严重智力发育迟缓以及伴有痉挛性四肢瘫的严重运动障碍。未观察到癫痫发作和视网膜色素沉着。这种状况在大约8年的时间里基本保持不变，患者在12岁时死于终末期支气管肺炎。尸检时发现大脑有明显的弥漫性萎缩，大脑皮层尤其受累。大多数皮层神经元被破坏，神经胶质细胞大量增殖。剩余的少数神经元含有被鉴定为脂褐素的包涵体物质。文中指出了与各种类型黑蒙性白痴的显著差异，并提示与芬兰最近报道的一例脂质沉积症病例存在相似之处。
