Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper.
In an infant with Menkes's steely-hair syndrome, early treatment (from 21 days of age) with parenteral copper failed to halt the disease. In addition to urinary tract abnormalities, panlobular emphysema was present a finding not previously noted in the syndrome.
D001928:Brain Diseases, Metabolic / Q000188:drug therapy*; D003300:Copper / Q000627:therapeutic use*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000188:drug therapy*; D008168:Lung / Q000473:pathology; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications / Q000188:drug therapy*; D011656:Pulmonary Emphysema / Q000150:complications / Q000473:pathology
D003300:Copper