Abstract
A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Brain / pathology
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Carbohydrate Metabolism, Inborn Errors / complications
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Carbohydrate Metabolism, Inborn Errors / metabolism*
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Carbohydrate Metabolism, Inborn Errors / pathology
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Cataract / complications
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Cataract / congenital
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Epilepsies, Myoclonic / complications
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Glycoproteins / metabolism*
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Humans
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Infant, Newborn
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Male
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Microscopy, Electron
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Spinal Cord / pathology
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Syndrome