Copper Deficiency, Familial Benign

Clinical Features

Mehes and Petrovicz (1982) found hypocupremia with normal ceruloplasmin (117700) levels in a 21-month-old boy admitted to hospital because of repeated seizures and failure to thrive. He had blond curly hair, spurring of the femurs and tibias, and mild anemia, but his mental development, electroencephalogram, and hair structure on microscopic examination were normal. His condition improved with supplements of oral copper, but as soon as these were reduced or stopped, hypocupremia and seizures recurred. Photographs showed curly hair and an appearance of the nose and lips reminiscent of that in the infantile hypercalcemia syndrome. The father and 2 brothers were physically and biochemically normal. The mother, aged 28, was notably thin, had always been pale and vulnerable to infections but had no seizures. Her face was seborrheic and her hair so thin that the top of the head was almost bald. Serum copper was low. The mother's brother was also thin and had been frequently ill as a child but had never had seizures. He had had blond, 'extremely curly' hair, but had been bald since age 24 years. His skin was seborrheic and serum copper was low. His 2 sons were healthy with brown, slightly curly hair and normal serum copper levels. Deficient dietary intake of copper and excessive renal loss were excluded. The authors suggested either X-linked or autosomal dominant inheritance and a defect in intestinal absorption of copper. Mehes and Petrovicz (1988-89) provided a 7-year follow-up. Low serum copper levels with marginally low/normal ceruloplasmin values persisted. It was thought that seborrhea improved with copper supplementation.