Department of Pediatrics, Maulana Azad Medical College, New Delhi.
Indian Pediatr. 2011 Sep;48(9):727-9. doi: 10.1007/s13312-011-0108-8.
A 6 year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld-Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1 and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has been infrequently described earlier in patients with 6p25 deletion.
一名 6 岁男孩表现为智力障碍、低张力、异常面容、听力受损、眼球突出、视力障碍、身材矮小、Axenfeld-Rieger 异常、二叶主动脉瓣和双侧感觉神经性耳聋。头部 CT 扫描提示皮质下和脑室周围白质脱髓鞘。FISH 显示 6p25 内包含 FOXC1 和 FOXF2 基因座的亚端粒微缺失。此前在 6p25 缺失患者中也有报道过中枢神经系统脱髓鞘现象。
