Abstract
Three unrelated cases of Menkes's syndrome are described. In addition to the typical features these cases all showed abnormalities of the urinary tract characterized by hydronephrosis, hydroureter, and bladder diverticula. There was no organic obstruction in the urinary tract and the changes are presumed to be due to disturbed innervation. The 3 patients showed no overall clinical response to parenteral copper therapy administered for periods of 1 to 8 months. Necropsy studies showed structural changes in veins as well as arteries together with aneurysm formation in both, and one case showed a polypoid lesion in the stomach.
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- Aguilar M. J., Chadwick D. L., Okuyama K., Kamoshita S. Kinky hair disease. I. Clinical and pathological features. J Neuropathol Exp Neurol. 1966 Oct;25(4):507–522. doi: 10.1097/00005072-196610000-00001. [DOI] [PubMed] [Google Scholar]
- Bucknall W. E., Haslam R. H., Holtzman N. A. Kinky hair syndrome: response to copper therapy. Pediatrics. 1973 Nov;52(5):653–657. [PubMed] [Google Scholar]
- Danks D. M., Campbell P. E., Stevens B. J., Mayne V., Cartwright E. Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics. 1972 Aug;50(2):188–201. [PubMed] [Google Scholar]
- Danks D. M., Campbell P. E., Walker-Smith J., Stevens B. J., Gillespie J. M., Blomfield J., Turner B. Menkes' kinky-hair syndrome. Lancet. 1972 May 20;1(7760):1100–1102. doi: 10.1016/s0140-6736(72)91433-x. [DOI] [PubMed] [Google Scholar]
- Danks D. M., Cartwright E., Stevens B. J., Townley R. R. Menkes' kinky hair disease: further definition of the defect in copper transport. Science. 1973 Mar 16;179(4078):1140–1142. doi: 10.1126/science.179.4078.1140. [DOI] [PubMed] [Google Scholar]
- Dekaban A. S., Steusing J. K. Letter: Menkes' kinky hair disease treated with subcutaneous copper sulphate. Lancet. 1974 Dec 21;2(7895):1523–1523. doi: 10.1016/s0140-6736(74)90268-2. [DOI] [PubMed] [Google Scholar]
- Grover W. D., Scrutton M. C. Copper infusion therapy in trichopoliodystrophy. J Pediatr. 1975 Feb;86(2):216–220. doi: 10.1016/s0022-3476(75)80471-9. [DOI] [PubMed] [Google Scholar]
- Horn N., Mikkelsen M., Heydorn K., Damsgaard E., Tygstrup I. Letter: Copper and steely hair. Lancet. 1975 May 31;1(7918):1236–1236. doi: 10.1016/s0140-6736(75)92214-x. [DOI] [PubMed] [Google Scholar]
- MENKES J. H., ALTER M., STEIGLEDER G. K., WEAKLEY D. R., SUNG J. H. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962 May;29:764–779. [PubMed] [Google Scholar]
- Walker-Smith J. A., Turner B., Blomfield J., Wise G. Therapeutic implications of copper deficiency in Menkes's steely-hair syndrome. Arch Dis Child. 1973 Dec;48(12):958–962. doi: 10.1136/adc.48.12.958. [DOI] [PMC free article] [PubMed] [Google Scholar]