1/2. Neuronal and vascular disorders of the brain and spinal cord in Menkes kinky hair disease.A 3 2/12-year-old boy had recurrent seizures, chronic respiratory infection, and delayed physical and mental development. He also had low plasma copper content typical of Menkes syndrome. autopsy showed marked neuronal loss and gliosis in most areas of the cerebral and cerebellar cortices, midbrain, pons, and medulla. The spinal cord showed severe demyelination in both ascending (spinocerebellar) and descending (lateral corticospinal) tracts from the cervical to the sacral level. In addition to these neuronal lesions, both the meningeal and parenchymal arterial and venous branches were remarkably dilated in the brain and spinal cord. Our previous study of this case showed abnormal perivascular innervation and abnormal axonal swelling of the postganglionic adrenergic fibers elsewhere in the body. The metabolic disorder caused by copper deficiency induces severe neuronal degeneration that is apparently exaggerated by extensive and progressive vascular abnormality.- - - - - - - - - - ranking = 1keywords = ganglion (Clic here for more details about this article) |
2/2. Menkes' kinky hair disease: clinical and experimental study.A pedigree of Menkes' kinky hair disease (MKHD) is reported. One patient of this family who underwent copper treatment was followed for three years with fundus examinations and ERG measurement. The blood copper level remained normal after six months of age, when intravenous treatment was switched from cupric acetate to cupric sulfate. optic nerve atrophy and decrease in amplitude of the ERG were observed at three years of age. In an experiment using mouse models of MKHD (macular mouse mutant, Moml), we compared the affected mice that received copper treatment with normal mice. However, there was no difference between them in ERG responses, number of ganglion cells, or thickness of retinal layers. These results support the possibility of prolonged survival and maintained vision in the patients of MKHD by earlier normalization of the copper level.- - - - - - - - - - ranking = 1keywords = ganglion (Clic here for more details about this article) |