Rott H D, Lang G E, Huk W, Pfeiffer R A
Institut für Humangenetik, University of Erlangen-Nürnberg, FRG.
Ophthalmic Paediatr Genet. 1990 Dec;11(4):273-9. doi: 10.3109/13816819009015713.
The authors report on a ten-year-old boy with hypomelanosis of Ito. He suffered from epileptic seizures and exhibited typical generalized partial skin hypomelanosis in whorl-like and striated pattern following Blaschko's lines. The fundi showed patchy, mottled hypopigmentations becoming increasingly striated in the periphery with a general orientation to the optic nerve head. This pattern of affection reminds of the retinal findings in carrier women for X-linked ocular albinism. Magnetic resonance imaging revealed multiple small areas of increased relaxation time scattered in the white matter of the brain, which are interpreted as porencephalic cysts. These clinical findings suggest somatic cell mosaicism even though the cytogenetic study was not conclusive.
作者报告了一名患有伊藤色素减退症的10岁男孩。他患有癫痫发作，并沿布拉斯科线呈漩涡状和条纹状出现典型的全身性局部皮肤色素减退。眼底显示斑驳的色素脱失，在周边区域逐渐呈条纹状，总体朝向视神经乳头。这种受累模式让人联想到X连锁眼白化病携带者女性的视网膜表现。磁共振成像显示脑白质中有多个散在的小区域，其弛豫时间增加，被解释为脑穿通性囊肿。尽管细胞遗传学研究尚无定论，但这些临床发现提示体细胞镶嵌现象。
