Abstract
Epileptic seizures are a common feature in Menkes disease, an X-linked genetic disorder of copper metabolism. Details of type of seizures are rarely reported. We report the evolution of infantile spasms in two patients with Menkes disease and the relation with subcutaneous administration of copper-histidine.
MeSH terms
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Brain / blood supply
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Brain / pathology
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Ceruloplasmin / cerebrospinal fluid
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Copper / blood
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Copper / cerebrospinal fluid
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Electroencephalography
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Histidine / analogs & derivatives
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Histidine / therapeutic use
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Humans
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Infant
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Infant, Newborn
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Lactic Acid / blood
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Lactic Acid / cerebrospinal fluid
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Magnetic Resonance Angiography
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Magnetic Resonance Imaging
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Male
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Menkes Kinky Hair Syndrome / diagnosis*
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Menkes Kinky Hair Syndrome / drug therapy
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Organometallic Compounds / therapeutic use
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Spasms, Infantile / diagnosis*
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Ultrasonography, Doppler
Substances
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Organometallic Compounds
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Lactic Acid
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Histidine
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Copper
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copper histidine
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Ceruloplasmin