Mills Zachary, Houston James Thomas, Thomas Ashley, Shoenmeyer Kelsey
UAB Epilepsy Center, Department of Neurology, 1719 6th Avenue South, CIRC 312, 35294 Birmingham, AL, United States of America.
Epilepsy Behav Rep. 2025 Apr 18;30:100770. doi: 10.1016/j.ebr.2025.100770. eCollection 2025 Jun.
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.
脑腱性黄瘤病（CTX）是一种罕见的常染色体隐性疾病，由于胆汁合成受阻导致胆固醇和胆甾烷醇蓄积。受累组织包括脑、肌腱、皮肤、骨骼、肺和眼睛。我们报告了一例以癫痫为表现的临床病例，此前已有相关描述，但该病例具有一种特殊的脑电图表现，即闭眼时出现对闭眼敏感（FOS）的异常慢波显著增强以及以额部为主的广泛性癫痫样放电，而睁眼时脑电图基本正常，最终出现脑电图演变并引发双侧强直阵挛性发作。基因检测确诊为CTX，除抗癫痫药物治疗外，开始使用鹅去氧胆酸进行CTX特异性治疗。
