de León G A, Crawford S E, Stack C, Darling C F, Johnson G S
Department of Pathology, Northwestern University School of Medicine, Chicago, IL, 60614, USA.
J Child Neurol. 1996 Jan;11(1):58-62. doi: 10.1177/088307389601100115.
An 8-year-old girl and her 4-year-old sister presented with psychomotor retardation during the 1st year of life. This was followed by spasticity, seizures, and in the older patient, progressive loss of faculties and death. Computed tomographic and magnetic resonance imaging scans demonstrated progressive cerebral atrophy in both patients. Postmortem examination in the older sibling showed diffuse atrophy of the supragranular layers of the cerebral cortex, atrophy and gliosis of the white matter, and accumulation of numerous amylaceous (polyglucosan) bodies within the cytoplasm of cell processes. The inclusions were closely associated with atrophy of the parenchyma. The findings suggest that this disorder is different from other childhood diseases in which amylaceous bodies accumulate within the brain.
一名8岁女孩及其4岁妹妹在出生后第一年出现精神运动发育迟缓。随后出现痉挛、癫痫发作，年长患者还出现进行性功能丧失和死亡。计算机断层扫描和磁共振成像扫描显示两名患者均有进行性脑萎缩。年长患儿的尸检显示大脑皮质颗粒上层弥漫性萎缩、白质萎缩和胶质增生，细胞突细胞质内有大量淀粉样（多葡聚糖）体聚集。这些包涵体与实质萎缩密切相关。研究结果表明，这种疾病与其他脑内有淀粉样体聚集的儿童疾病不同。
