脑腱黄瘤病再探。
Cerebrotendinous xanthomatosis revisited.
机构信息
Faculty of Medicine, Department of Neurology, Mazandaran University of Medical Sciences, Sari, Iran
Laboratory Sciences, Medical Genetics, School of Allied Medical Sciences, Thalassemia Research Center, Hemoglobinopathy Research Institute, Mazandaran University of Medical Sciences, Sari, Iran.
出版信息
Pract Neurol. 2021 Jun;21(3):243-245. doi: 10.1136/practneurol-2020-002895. Epub 2021 Apr 14.
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.
脑腱性黄瘤病是一种罕见的常染色体隐性脂质贮积症，临床上以进行性神经退行性变、青少年白内障和成人肌腱黄色瘤三联征为特征。它是可治疗的，及时诊断可以改善预后。我们描述了一位以进行性共济失调为表现的该病患者。
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