[Parkinsonism associated with cerebrotendinous xanthomatosis].
[Parkinsonism associated with cerebrotendinous xanthomatosis].
复制标题
[帕金森病与脑腱黄瘤病相关]。
DOI：
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发表时间：
1990
期刊：
影响因子：
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通讯作者：
M. Hayashi
中科院分区：
文献类型：
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作者：
N. Shibata;I. Moroo;M. Hayashi
本文报告两例伴发帕金森综合征的手足脑腱黄瘤病。一个是39岁的女人，另一个是她36岁的妹妹。两例患儿均于1.5岁时出现热性惊厥，进入小学后依次发展为智力衰退、共济失调-痉挛步态、白内障和跟腱肿胀。5年前首次住院时，因精神障碍、小脑性共济失调、锥体束征、组织学跟腱黄色瘤肉芽肿、高胆固醇血症、常染色体隐性遗传性家族史诊断为脑腱黄瘤病。第二次入院后，除上述发现外，还注意到帕金森症。帕金森综合征表现为：姐姐表现为帕金森型静止性震颤，前臂和手内有轻度肌肉僵直，妹妹表现为全身重度僵直和运动迟缓。两例头颅CT均显示桥小脑萎缩，双侧放射冠、内囊后部、大脑脚、中脑被盖及小脑深部低密度区。脑MRI也显示与脑CT相同的区域异常信号。帕金森综合症患者服用抗帕金森病药物受到了挑战。口服L-多巴测试(500毫克)在两个病例中都适度改善了帕金森氏症。在姐姐中，盐酸二苯基吡喃(10 mg/d)完全抑制帕金森震颤和轻度强直，但对妹妹的重度强直的疗效不如L-多巴。
Two sibling cases of cerebrotendinous xanthomatosis with parkinsonism were reported. One was a woman of 39 years old, and another was her sister of 36 years old. In both cases, febrile convulsion appeared on 1.5 year old, and mental deterioration, ataxic -spastic gait, cataract and swelling of Achilles tendons developed in order since entrance into elementary school. Five years ago, while they were in hospital at the first time, they were diagnosed as cerebrotendinous xanthomatosis by mental disturbance, cerebellar ataxia, pyramidal tract sign, histologically xanthomatous granuloma of Achilles tendons and hypercholestanolemia and family history of autosomal recessive trait. After the second admission, parkinsonism was noticed in addition to those findings above. Parkinsonism consisted of the following: Resting tremor of parkinsonian type, mild muscle rigidity of forearm and intrinsic-plus hand were observed in the elder sister, and generalized severe rigidity and bradykinesia in the younger sister. In both cases, brain CT showed the pontocerebellar atrophy, and the bilateral low density area in corona radiata, posterior portion of internal capsule, cerebral peduncle, tegmentum of midbrain and deep matter of cerebellum. Brain MRI also showed abnormal intensity in the same regions as on the brain CT. Administration of anti-parkinsonian drugs was challenged for the parkinsonism. Oral L-dopa test (500 mg) moderately improved parkinsonism in both cases. Therapy of diphenylpyraline hydrochloride (10 mg/day) entirely inhibited parkinsonian tremor and mild rigidity in the elder sister but was less effective for severe rigidity in the younger sister than administration of L-dopa.(ABSTRACT TRUNCATED AT 250 WORDS)