Aicardi J, Goutières F
Ann Neurol. 1984 Jan;15(1):49-54. doi: 10.1002/ana.410150109.
Eight infants developed a progressive disorder of the central nervous system with bilateral spasticity and dystonia, acquired microcephaly, and a rapid course toward profound deterioration and death. All the patients had abnormal cerebrospinal fluid with mild but persistent lymphocytosis. Computed tomography showed various combinations of bilateral symmetrical calcifications in the basal ganglia, progressive brain atrophy, and deep white matter hypodensities, the first two being present in all families but not in every individual patient. The disorder is familial and probably genetic in origin, although some features, especially the pleocytosis, may erroneously suggest an inflammatory condition.
八名婴儿出现了中枢神经系统的进行性疾病，伴有双侧痉挛和肌张力障碍、后天性小头畸形，并迅速走向严重恶化和死亡。所有患者的脑脊液均异常，伴有轻度但持续的淋巴细胞增多。计算机断层扫描显示基底神经节双侧对称性钙化、进行性脑萎缩和深部白质低密度影的各种组合，前两者在所有家族中均有出现，但并非每个患者都有。该疾病为家族性，可能起源于遗传，尽管某些特征，尤其是脑脊液细胞增多，可能错误地提示炎症状态。
