Hirashima Y, Shinozuka S, Ieiri T, Matsuda I, Ono Y, Murata T
Eur J Pediatr. 1979 Jan 18;130(1):41-5. doi: 10.1007/BF00441897.
A 50-day-old boy with severe lactose intolerance is described. In addition to vomiting, failure to thrive, dehydration, metabolic acidosis and amino aciduria, bilateral cataracts were also found. At three months of age, a computerized axial tomography scan and an electroencephalogram were abnormal, and myoclonic spasms began at the age of seven months.
描述了一名50日龄患有严重乳糖不耐受的男婴。除呕吐、生长发育迟缓、脱水、代谢性酸中毒和氨基酸尿外，还发现双侧白内障。3个月大时，计算机断层扫描和脑电图异常，7个月大时开始出现肌阵挛性痉挛。
