Lo Y S, Jong Y J, Chiang C H, Tsai J L
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1989 May-Jun;30(3):196-201.
A male infant, 2-month-old, was delivered normally at term. He weighed 3.0 Kg and was stated to be quite well until convulsion was presented at the age of 1 month. The convulsion was complex partial seizure in character. Physical examinations showed body weight 2.7 Kg (less than 3 percentile), body temperature 35.7 degrees C, opisthotonic in posture, staring of eyes and unawareness of the outside environment. His hair appeared sparse, coarse and light yellowish color. Laboratory examinations showed normal hemogram and cerebrospinal fluid data. Low serum copper (10 mg/dl), ceruloplasmin (13.5 mg/dl) and hair copper (9.73 ppm) were found. The EEG revealed paroxysmal sharp waves with phase reverses at right temporal and occipital area. Fundus examination showed bilateral optic atrophy. Microscopic examination of the hair showed pili torti (twisting) of the hair. The baby was persisted in hypothermia, poor activity and poor weight gain. The convulsion was poorly controlled and progressed in opisthotonus. The baby died of unknown cause at 3 months of age.
一名2个月大的男婴足月顺产。他出生体重3.0千克，据说在1个月大出现惊厥之前情况一直良好。惊厥表现为复杂部分性发作。体格检查显示体重2.7千克（低于第3百分位数），体温35.7摄氏度，呈角弓反张姿势，双眼凝视，对外界环境无反应。他的头发稀疏、粗糙且呈浅黄色。实验室检查显示血常规和脑脊液数据正常。发现血清铜水平低（10毫克/分升）、铜蓝蛋白水平低（13.5毫克/分升）以及头发铜含量低（9.73 ppm）。脑电图显示右侧颞叶和枕叶区域有阵发性锐波伴相位反转。眼底检查显示双侧视神经萎缩。头发显微镜检查显示毛发扭曲。婴儿持续体温过低、活动差且体重增加缓慢。惊厥控制不佳，角弓反张加重。婴儿在3个月大时死因不明。
