Familial benign copper deficiency: an old case re-examined.

Seven years follow-up and re-examinations of a boy and his mother with "familial benign copper deficiency" revealed repeatedly subnormal serum copper and normal caeruloplasmin levels with relatively good psychosomatic development in the 9-year-old index patient. 64Cu-uptake was elevated in the mother's and normal in the proband's fibroblasts. The pathomechanism of the condition remained unknown, but the biochemical findings and the clinical course did not correspond to any of the previously described forms of congenital defects of copper metabolism.

Familial benign copper deficiency.

Hypocupraemia with normal caeruloplasmin levels was found in a 21-month-old boy admitted to hospital because of repeated seizures and failure to thrive. He had blonde curly hair, spurring of the femora and tibiae, and mild anaemia, but his mental development, electroencephalogram, and structure of the hair on microscopical examination were normal. There was a general improvement in his condition with supplements of oral copper but as soon as these were reduced or stopped hypocupraemia and seizures resumed. Family investigation showed copper deficiency with mild symptoms in the mother and the maternal uncle. The pedigree suggests possible autosomal dominant or X-linked dominant transmission.