Cavanagh N, Kendall B
Dev Med Child Neurol. 1986 Dec;28(6):799-802. doi: 10.1111/j.1469-8749.1986.tb03934.x.
In a child with a compatible clinical presentation and course of illness, Krabbe's disease was proven by white blood-cell galactocerebrosidase estimation in the homozygous range. A CT head scan performed at five months of age revealed symmetrical high density in the thalami, posterior limbs of the internal capsules and corona radiata. It also showed low density in the deep white-matter of the cerebral and cerebellar hemispheres and minor cerebral atrophy. Similar CT findings have been recorded in four other cases of infantile Krabbe's disease, and the authors consider that they are sufficient to alert the clinician to the probability of this diagnosis when the clinical signs are appropriate.
对于一名临床表现和病程相符的儿童,通过测定白细胞中半乳糖脑苷脂酶处于纯合子范围,证实为克拉伯病。患儿5个月大时进行的头颅CT扫描显示,丘脑、内囊后肢和放射冠呈对称性高密度影。同时还显示大脑和小脑半球深部白质低密度影以及轻度脑萎缩。另外4例婴儿型克拉伯病也有类似的CT表现,作者认为,当临床症状相符时,这些表现足以提醒临床医生考虑这一诊断的可能性。