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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.

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

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Autosomal dominant or X-linked dominant.

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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.

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

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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 21:259, 2002.  [PubMed: 12042066]
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.

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