Epileptic seizure as a presenting symptom of cerebrotendinous xanthomatosis.
Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, cerebellar ataxia, spastic paresis, and dementia. Though electroencephalographic (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.
Department of Neurology, Assaf Harofeh Medical Center, Zerifin, Israel.
A
A
Arlazoroff
B
B
Roitberg
E
E
Werber
R
R
Shidlo
V M
VM
Berginer
D000125:Achilles Tendon / Q000473:pathology; D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009483:Neuropsychological Tests; D014973:Xanthomatosis / Q000150:complications / Q000175:diagnosis* / Q000473:pathology