Williams R S, Marshall P C, Lott I T, Caviness V S
Neurology. 1978 Jun;28(6):575-83. doi: 10.1212/wnl.28.6.575.
The principal neuropathologic abnormality observed in three autopsy cases of Menkes steely hair syndrome was widespread nerve cell loss and gliosis, especially severe in the cerebral and cerebellar cortex and in the relay nuclei of the thalamus. Granular stellate cells of neocortical layer IV and the granule cells of the cerebellum are cell classes which were particularly severely depopulated. The degree of reduction of myelinated axons is consistent with axonal degeneration secondary to nerve cell loss. There are also prominent abnormalities in the patterns of dendritic arborization of surviving cortical pyramids and cerebellar Purkinje cells as seen in Golgi impregnations. The deviant neuronal forms are probably due, in part, to failure of innervation by afferent fiber systems during the fetal as well as postnatal epochs.
在三例门克斯综合征（Menkes steely hair syndrome）尸检病例中观察到的主要神经病理学异常是广泛的神经细胞丢失和胶质细胞增生，在大脑和小脑皮质以及丘脑的中继核中尤为严重。新皮质第四层的颗粒状星形细胞和小脑的颗粒细胞是细胞种类中特别严重减少的。有髓轴突的减少程度与神经细胞丢失继发的轴突变性一致。在高尔基浸染标本中也可以看到，存活下来的皮质锥体神经元和小脑浦肯野细胞的树突分支模式存在明显异常。这些异常的神经元形态可能部分归因于胎儿期和出生后传入纤维系统的神经支配失败。
