A case of spinocerebellar ataxia type 8 presenting with multiple system atrophy cerebral type
张亚洁 1陈科良 2郁金泰2
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作者信息
1. 淮安市第五人民医院(扬州大学附属淮安医院)神经内科(淮安 223300)
2. 复旦大学附属华山医院神经内科
折叠
摘要
报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者.该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现.神经系统查体提示自主神经功能障碍、眼球震颤、构音障碍、共济失调,颅脑核磁共振见脑干、小脑对称性萎缩及脑桥"十字征".基因检测结果显示ATXN8OS的两个等位基因CTA/CTG重复次数异常增多,确诊为SCA8.治疗上予以改善共济失调、自主神经功能障碍等对症治疗后患者反应良好.SCA8为罕见的运动障碍性疾病,临床异质性高.本报道旨在提示临床医师,SCA8也可表现为自主神经功能障碍、共济失调、脑桥"十字征"等类似多系统萎缩小脑型的特点,临床工作中要避免误诊、漏诊.
Abstract
We report a case of spinocerebellar ataxia type 8(SCA8)presenting with multisystem atrophic phenotype.The patient was a 57-year-old male with a 4-year course of illness with dizziness and ataxia as the first symptoms,followed by autonomic dysfunction and rapid eye movement sleep disorder.Neurological examination reveals autonomic dysfunction,nystagmus,dysarthria,ataxia,brain stem and cerebellar symmetrical atrophy and"hot cross bun"sign on MRI.The diagnosis of SCA8 was confirmed by the genetic testing which showed an abnormally high number of CTA/CTG repeats in the two alleles of the ATXN8OS.The patient responded well to symptomatic treatment such as ataxia and autonomic dysfunction.SCA8 is a rare movement disorder with high clinical heterogeneity.This report suggests that SCA8 can also present with autonomic dysfunction,ataxia,pontine"hot cross bun"sign and other characteristics similar to multisystem atrophy phenotype.Thus,it is necessary for clinicians to avoid misdiagnosis or missing the diagnosis of SCA8 presenting with multiple system atrophy cerebral type in clinical work.
关键词
脊髓小脑性共济失调8型/多系统萎缩小脑型/ATXN8OS基因/快速眼动睡眠障碍/自主神经功能障碍
Key words
Spinocerebellar ataxia type 8/Multiple system atrophy cerebral type/ATXN8OS gene/Rapid-eye-movement sleep behavior disorder/Autonomic dysfunction
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