Abstract
Urea cycle disorders are known to be unusual causes of stroke. We report two infant cases of citrullinaemia that both initially presented with a stroke and suggest that urea cycle disorders should be included in the differential diagnosis of unexplained stroke during infancy and childhood.
MeSH terms
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Argininosuccinate Synthase / genetics
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Brain / pathology
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Citrullinemia / complications*
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Citrullinemia / diagnosis*
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Electroencephalography
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Female
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Humans
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Infant
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Magnetic Resonance Imaging
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Mutation, Missense
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Seizures
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Stroke / complications*
Substances
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Argininosuccinate Synthase