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.
Llanos RM, Mercer JF: The molecular basis of copper homeostasis
copper-related disorders. DNA Cell Biol
Mehes K, Petrovicz E: Familial benign copper deficiency. Arch Dis Child 57:716, 1986.
Mehes K, Petrovicz E: Familial benign copper deficiency: An old case
re-examined. Acta Paediatr Hung 89;29:313, 1988.