Familial Benign Copper Deficiency

Infant presenting with seizures as a result of low serum copper with normal ceruloplasmin levels and normal copper urinary excretion. Improvement of the physical status can be observed following oral supplementation. Postulated to result from a defect in copper absorption.

One case with two affected relatives has been described in the literature.

Autosomal dominant or X-linked dominant.

Other causes of copper deficiency (e.g., low intake, prolonged parenteral nutrition, alkali medication for renal acidosis, long-term zinc therapy) must be excluded to make the diagnosis. Development of seizures responsive to dietary copper supplementation and recurring on withdrawal. Failure to thrive. Iron-deficient anemia. Very curly hair. Radiology shows spurring of femora and tibiae.

Check complete blood count. Consider whether preoperative transfusion is needed. Avoid substances that reduce the seizure threshold and could lead to intraoperative seizure activities.

Menkes Syndrome: Differentiated by severe neurologic deterioration leading to death by age 3 to 4 years, pili torti, tortuosity of arteries, and decreased ceruloplasmin levels.