Troost D, van Rossum A, Straks W, Willemse J
Brain Dev. 1982;4(2):115-26. doi: 10.1016/s0387-7604(82)80005-3.
The neuropathologic abnormalities in three new cases of Menkes' kinky hair disease are described. Principally the three cases were the same. Hypoplasia of the cerebellum, with a basal arachnoïdal cyst, was present in all three cases. The cysts were not described before in Menkes' disease. There was nerve cell loss and gliosis in the cerebral cortex, cerebellum and thalamus. The reduction of myelinated axons was widespread and the disease does not belong to the leukodystrophies. Cortical lamination disturbances were present indicating that the disease develops as early as the sixth fetal month. Abnormal arborization of Purkinje cells with swelling of dendrites was present and thought not to be identical with the Purkinje cell abnormalities seen in amaurotic idiocy. The difference in severity of the copper deficiency in 2 patients is compared with the situation in "brindled" and "blotchy" mutant mice.
本文描述了三例新的门克斯卷发综合征患者的神经病理学异常情况。这三个病例基本相同。三例患者均出现小脑发育不全，并伴有基底蛛网膜囊肿。此前门克斯病中未描述过此类囊肿。大脑皮层、小脑和丘脑均存在神经细胞丢失和胶质细胞增生。有髓轴突减少广泛存在，且该疾病不属于脑白质营养不良。存在皮质分层紊乱，表明该疾病早在胎儿第六个月就已发展。浦肯野细胞出现异常分支且树突肿胀，认为与黑蒙性白痴中所见的浦肯野细胞异常不同。比较了两名患者铜缺乏严重程度的差异与“花斑”和“斑点”突变小鼠的情况。
