Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive condition resulting in accumulation of cholesterol and cholestanol due to disrupted bile synthesis. Affected tissues include brain, tendons, skin, bone, lungs, and eyes. We report a clinical case presenting with epilepsy, which has b...
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| Language: | English |
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Elsevier
2025-06-01
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| Series: | Epilepsy & Behavior Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589986425000309 |
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| author | Zachary Mills James Thomas Houston Ashley Thomas Kelsey Shoenmeyer |
| author_facet | Zachary Mills James Thomas Houston Ashley Thomas Kelsey Shoenmeyer |
| author_sort | Zachary Mills |
| collection | DOAJ |
| description | Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive condition resulting in accumulation of cholesterol and cholestanol due to disrupted bile synthesis. Affected tissues include brain, tendons, skin, bone, lungs, and eyes. We report a clinical case presenting with epilepsy, which has been described, however with a particular EEG appearance that appears novel with Fixation-Off Sensitivity (FOS). The patient’s EEG showed significant buildup of abnormal slowing and frontally predominant generalized epileptiform discharges when her eyes were closed, and in contrast essentially normal tracings while eyes were open, eventually showing electrographic evolution and generating a bilateral tonic-clonic seizure. Genetic testing confirmed the diagnosis of CTX, and CTX-specific treatment with chonodeoxycholic acid was initiated in addition to anti-seizure medication. |
| format | Article |
| id | doaj-art-1d3c8af5cfdc42aeaebb5cb07c95ed7a |
| institution | DOAJ |
| issn | 2589-9864 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Epilepsy & Behavior Reports |
| spelling | doaj-art-1d3c8af5cfdc42aeaebb5cb07c95ed7a2025-08-20T03:12:57ZengElsevierEpilepsy & Behavior Reports2589-98642025-06-013010077010.1016/j.ebr.2025.100770Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off SensitivityZachary Mills0James Thomas Houston1Ashley Thomas2Kelsey Shoenmeyer3UAB Epilepsy Center, Department of Neurology, 1719 6th Avenue South, CIRC 312, 35294 Birmingham, AL, United States of AmericaCorresponding author.; UAB Epilepsy Center, Department of Neurology, 1719 6th Avenue South, CIRC 312, 35294 Birmingham, AL, United States of AmericaUAB Epilepsy Center, Department of Neurology, 1719 6th Avenue South, CIRC 312, 35294 Birmingham, AL, United States of AmericaUAB Epilepsy Center, Department of Neurology, 1719 6th Avenue South, CIRC 312, 35294 Birmingham, AL, United States of AmericaCerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive condition resulting in accumulation of cholesterol and cholestanol due to disrupted bile synthesis. Affected tissues include brain, tendons, skin, bone, lungs, and eyes. We report a clinical case presenting with epilepsy, which has been described, however with a particular EEG appearance that appears novel with Fixation-Off Sensitivity (FOS). The patient’s EEG showed significant buildup of abnormal slowing and frontally predominant generalized epileptiform discharges when her eyes were closed, and in contrast essentially normal tracings while eyes were open, eventually showing electrographic evolution and generating a bilateral tonic-clonic seizure. Genetic testing confirmed the diagnosis of CTX, and CTX-specific treatment with chonodeoxycholic acid was initiated in addition to anti-seizure medication.http://www.sciencedirect.com/science/article/pii/S2589986425000309Cerebrotendinous Xanthomatosis (CTX)Fixation-Off Sensitivity (FOS)EpilepsyElectroencephalography (EEG)CYP27A1 Gene |
| spellingShingle | Zachary Mills James Thomas Houston Ashley Thomas Kelsey Shoenmeyer Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity Epilepsy & Behavior Reports Cerebrotendinous Xanthomatosis (CTX) Fixation-Off Sensitivity (FOS) Epilepsy Electroencephalography (EEG) CYP27A1 Gene |
| title | Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity |
| title_full | Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity |
| title_fullStr | Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity |
| title_full_unstemmed | Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity |
| title_short | Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity |
| title_sort | cerebrotendinous xanthomatosis novel eeg finding of fixation off sensitivity |
| topic | Cerebrotendinous Xanthomatosis (CTX) Fixation-Off Sensitivity (FOS) Epilepsy Electroencephalography (EEG) CYP27A1 Gene |
| url | http://www.sciencedirect.com/science/article/pii/S2589986425000309 |
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