脊髓小脑性共济失调3型患者家系分析

Pedigree analysis of spinocerebellar ataxia type 3 disease

目的:分析1家系脊髓小脑性共济失调(SCA)3型病例,回顾本病的临床表现及分型,为临床诊治提供经验。方法:先证者,女,28岁,以主诉"进行性行走不稳2年余"于2016年10月至我院就诊,分析患者的临床表现、体征、影像学资料、基因检测结果及家系资料,并绘制家系图。结果:本家系先证者主要表现为行走不稳,言语不清,饮水呛咳,构音障碍,双手持物不稳、笨拙、僵硬,视力下降,查体示言语含糊,双眼水平凝视眼震(+),双下肢肌张力增高,四肢腱反射亢进,髌阵挛、踝阵挛(+),双侧Babinski征、Chaddock征(±),剪刀步态,指鼻、跟-膝-胫试验完成可,闭目难立征(+),临床主要表现为痉挛性截瘫及共济失调症状。先证者SCA3型基因三核苷酸CAG重复69次。患者的外祖父(45岁发病)、母亲(40岁发病)、大舅(42岁发病)主要表现为行走不稳,饮食呛咳,言语含糊,持物不稳等小脑性共济失调症状,因均已故无法配合进行基因检测。结论:先证者家系4代中共4人发病,主要表现为小脑性共济失调,且本家系发病年龄逐代提前,具有遗传早现现象。

Objective:To report a case of spinocerebellar ataxia type 3(SCA3)family,and analyze clinical manifestation and pathological by literature review,in order to provide experience for clinical diagnosis and treatment of the disease.Methods:The proband,female,28 years old,presented in October 2016 because of unstable walking for more than 2 years.The clinical manifestations,physical examination,imaging,and family data of the proband,and performed genetic testing on the proband and family were analyzed.Results:The proband of this family mainly manifested as unstable walking,unclear speech,choking cough in drinking water,dysarthria,clumsy and stiff hands,decreased vision,vague speech,horizontal eye gaze(+),increased muscular tension of both lower limbs,hyperreflexia of the tendons of the limbs,patellar clonus and ankle clonus(+),bilateral Babinski sign(±),Chaddock sign(±),scissors gait,relatively normal heel-to-knee-to-shin test,Romberg test(+),and clinical manifestations included spastic paraplegia and ataxia.For the proband,the number of repetitions of(CAG)was 69,exceeding the normal range.The first generation of the family was onset at 45 years old.The second generation was onset at 40 years old and 42 years old,respectively.The third generation(the proband)was onset at 26 years old.The 4th generation,the proband’s son and daughter.At present,there has been no apparent abnormal performance.The main clinical manifestations of the proband were ataxia and spastic paraplegia.The patient’s grandfather,mother,and mother’s brother mainly manifested as cerebellar ataxia symptoms.Conclusions:Four people in the four generations of the proband family developed the disease,mainly manifested as cerebellar ataxia,and the onset age of the family was advanced from generation to generation.