摘要
目的:报道3例散发性神经棘红细胞病患者的临床表现。方法:对经电镜证实的3例外周血红细胞中棘红细胞〉5%患者的临床表现和分型,结合复习相关文献予以分析。结果:神经棘红细胞病3例,其中男2例、女1例;年龄35~79岁,平均年龄(56.6±22.0)岁;平均病程(2.6±1.0)年(7个月至5年)。均为隐匿起病,缓慢进展,表现为明显的小脑共济失调体征和步态。MRI示小脑萎缩。1例伴智能减退和异动症,1例高密度脂蛋白高于正常。扫描电镜发现3例患者周围血红细胞中,棘红细胞均〉5%。结论:散发性小脑性共济失调的成人患者应考虑神经棘红细胞病可能。
Aim: To report 3 cases with neuroacanthocytosis.Methods: The percentage of acanthocyte was found more than 5% in peripheral blood in 4 cases by scanning electron microscope.Results: The four cases consisted of 2 males and 1 female.The mean age of onset was 56.6 yrs(35 to 79).The course of clinical development at first examination was near 2.6 yrs(7 months to 5 yrs) and all of the four cases were progressively sporadic.On examination,all of the cases had dysarthria and cerebellar ataxia.One of them had the dyskinesia and dementia that MMSE scale showed 23.Another had the plantar responses.Percentage of acanthocytes in total red blood cells was more than 10%(10%~28%).MRI of all the patients showed cerebellar atrophy.The levels of high density lipoprotein cholesterol were increased in two cases.Conclusion: Neuroacanthocytosis might present a variety of neurological manifestation,including cerebellar ataxia,dysarthria,and etc.
出处
《中国临床神经科学》
2012年第1期10-15,共6页
Chinese Journal of Clinical Neurosciences