Hsu H C, Lin G S, Li W M
Department of Dermatology, Veterans General Hospital-Taichung, Taiwan, Republic of China.
Int J Dermatol. 1988 Dec;27(10):695-7. doi: 10.1111/j.1365-4362.1988.tb01266.x.
A 6-year-old boy with features of the keratitis-ichthyosis-deafness (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with cerebellar hypoplasia. This finding, together with neurosensory deafness and other neuromuscular defects, may suggest that there is an underlying inborn error of nervous system in the KID syndrome. In vitro immunologic studies in this patient also showed a possible deficit in cellular immunity.
一名患有角膜炎-鱼鳞病-耳聋（KID）综合征及小脑发育不全的6岁男孩，是通过计算机断层扫描检测出小脑异常的第二例患者，但却是首例关于KID综合征合并小脑发育不全的报告。这一发现，连同神经感觉性耳聋及其他神经肌肉缺陷，可能提示KID综合征存在潜在的先天性神经系统缺陷。对该患者进行的体外免疫学研究也显示其细胞免疫可能存在缺陷。
