Matsumuro K, Takahashi K, Matsumoto H, Okatsu Y, Kuriyama M
Department of Neurology, Okatsu Hospital, Kagoshima.
Rinsho Shinkeigaku. 1990 Feb;30(2):207-9.
A 35 year-old male was admitted to our hospital because of convulsive seizures. His parents are first cousins. No other members of his family have similar symptoms. He showed mental retardation since childhood. At age 14, he had generalized convulsive seizures that were intractable. Bilateral cataracts were found and extracted at age 18. He noticed bilateral swellings at Achilles tendons at around 25 years of age. Physical examination revealed bilateral swellings of Achilles tendons. Neurologically, he showed poor intellectual ability, hyperreflexia with positive Babinski's sign and cerebellar ataxia. Marked elevations of cholestanol level (53.84 micrograms/ml; normal: 2.71 +/- 0.81, n = 17) and cholestanol/cholesterol ratio (2.20%; normal: 0.16 +/- 0.05, n = 17) were detected in serum. EEG showed abnormal background activities with bursts of high voltage slow theta activities. MRI study showed high intensity lesions in globus pallidus and multiple lesions in white matter with long spin echo sequence. Oral administration of chenodeoxycholic acid improved EEG findings, serum cholestanol level and convulsive seizures. However, the MRI abnormalities remained unchanged, which suggested irreversible brain damage. We reviewed the previous reports of 144 cases of CTX. Fourteen cases had convulsive seizures. We stress that CTX is one the causes of symptomatic epilepsy.
一名35岁男性因惊厥发作入院。他的父母是近亲。他的家族中没有其他成员有类似症状。他自幼智力发育迟缓。14岁时，他出现全身性惊厥发作，难以控制。18岁时发现双侧白内障并进行了摘除。他在25岁左右注意到双侧跟腱肿胀。体格检查发现双侧跟腱肿胀。神经系统检查显示，他智力低下，反射亢进，巴宾斯基征阳性，并有小脑共济失调。血清中胆甾烷醇水平显著升高（53.84微克/毫升；正常：2.71±0.81，n = 17），胆甾烷醇/胆固醇比值升高（2.20%；正常：0.16±0.05，n = 17）。脑电图显示背景活动异常，伴有高电压慢θ活动爆发。磁共振成像研究显示，在苍白球有高强度病变，在长自旋回波序列的白质中有多个病变。口服鹅去氧胆酸改善了脑电图结果、血清胆甾烷醇水平和惊厥发作。然而，磁共振成像异常未改变，这提示存在不可逆的脑损伤。我们回顾了之前144例脑腱黄瘤病（CTX）的报告。14例有惊厥发作。我们强调，CTX是症状性癫痫的病因之一。
