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Epileptic Seizure as a Presenting Symptom of Cerebrotendinous Xanthomatosis
Author(s) -
Arlazoroff A.,
Roitberg B.,
Werber E.,
Shidlo R.,
Berginer V. M.
Publication year - 1991
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1157.1991.tb04705.x
Subject(s) - cerebrotendinous xanthomatosis , epilepsy , seizure disorders , medicine , clinical neurology , epileptic seizure , pediatrics , psychology , psychiatry , neuroscience , cholesterol
Summary: Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, cerebellar ataxia, spastic paresis, and dementia. Though electroencephalo‐graphic (EEG) abnormalities are frequent in CTX, epileptic seizures have not been recognized as a major feature. A CTX patient is reported who presented with a generalized epileptic seizure and was evaluated with EEG and neuropsychological testing. Epilepsy should be considered a feature of CTX, and CTX considered as a possible, though rare, cause of symptomatic seizures.