THE SYNDROME OF NEONATAL COPPER DEFICIENCY

Abstract

A syndrome of primary copper deficiency in a 6-month-old premature baby is described. Features which can be ascribed to lack of copper, include (1) a sideroblastic anemia resistant to other therapy, with vacuolation of erythroid and myeloid bone marrow cells, and iron deposition in the vacuoles and in some mitochondria; (2) neutropenia, especially segmentopenia, which was common and prominent; (3) long-bone changes on radiological examination, particularly osteoporosis with blurring and cupping of the metaphyses; (4) depigmentation of skin and hair, with distended blood vessels due to changes in the elastin of the vessel walls; and (5) central nervous system abnormalities including hypotonia, psychomotor retardation, and difficulties with sight. Besides this small premature infant, who had received a relatively copper-deficient milk diet for at least three months, a second case has been seen in a 2,100-gm premature infant, after three months of intravenous alimenation necessitated by neonatal bowel surgery. Treatment with oral copper, 1 to 3 mg/day, dramatically cured both patients. It is recommended that 100 to 500µg/day of copper be added to the diet of small premature infants until they are receiving other foods beside milk, and to prolonged intravenous alimentation beginning in the newborn period.