Abstract
Cerebrotendinous xanthomatosis is one of the rare forms of treatable hereditary neurodegenerative disorders. It is due to a defect in hydroxylation of cholesterol side chain that impairs oxidative cleavage of cholesterol leading to excess accumulation of cholesterol. Here we present such a case which presented to us with recurrent generalized tonic clonic seizures. He is under treatment for the same and has not neurologically deteriorated since then.
MeSH terms
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Adult
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Anticonvulsants / therapeutic use
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Carbamazepine / therapeutic use
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Chenodeoxycholic Acid / therapeutic use
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GABA Agents / therapeutic use
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Gastrointestinal Agents / therapeutic use
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Humans
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Male
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Valproic Acid / therapeutic use
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Xanthomatosis, Cerebrotendinous / diagnosis*
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Xanthomatosis, Cerebrotendinous / drug therapy
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Xanthomatosis, Cerebrotendinous / pathology
Substances
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Anticonvulsants
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GABA Agents
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Gastrointestinal Agents
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Chenodeoxycholic Acid
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Carbamazepine
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Valproic Acid