本文报告1例POLR3A基因突变致髓鞘形成不良的脑白质营养不良7型(hypomyelinating leukodystrophy type 7,HLD7)病例。患者为53岁女性,表现为进行性加重的痉挛性步态和构音障碍,并伴部分感觉功能受累,幼儿时期有运动里程碑发育延迟和牙...本文报告1例POLR3A基因突变致髓鞘形成不良的脑白质营养不良7型(hypomyelinating leukodystrophy type 7,HLD7)病例。患者为53岁女性,表现为进行性加重的痉挛性步态和构音障碍,并伴部分感觉功能受累,幼儿时期有运动里程碑发育延迟和牙齿发育异常。MRI提示有脑白质病变和小脑萎缩。基因检测提示患者POLR3A基因存在复合杂合变异c.928T>A(p.W310R)和c.3295C>T(p.R1099C),该变异位点既往未见报告。本病以对症支持治疗为主。本文通过对该病例的报告及文献回顾,期望提高对HLD7及POLR3-HLD疾病谱系的认识,并为临床诊治提供参考。展开更多
A 42-year-old woman,born to non-consanguineous parents with no family history of neurological diseases,suffered from ataxia for 3 years.After a normal psychomotor development,the patient first presented dental eruptio...A 42-year-old woman,born to non-consanguineous parents with no family history of neurological diseases,suffered from ataxia for 3 years.After a normal psychomotor development,the patient first presented dental eruption at 1-year-old and with absence at 5 years of age.She stopped growing when she was 15 years old,and remained heights under 150 cm.Intellectual impairment became evident at 35 years old.Approximately 4 years ago (38 years old),she appeared secondary amenorrhea.Ataxia aggravated in the following 3 years and gradually affected daily life.On examinations,she has short stature [Supplementary Figure 1,http://links.lww.com/CM9/A61],tooth dysplasia and ataxia-related syndrome.There were no nystagmus,papilla atrophy or other visual problems.Her Mini-Mental State Examination (MMSE) score was 19,indicating mild intellectual disability.No contraceptives were used.She gave birth to a boy by making a cesarean section at 23-year-old,and her son was without any neurological symptom so far.Her parents died of other internal medicine diseases.Their gonads developed normally when they were alive.Only one brother who showed normal appearance and cognition was in her family.展开更多
文摘本文报告1例POLR3A基因突变致髓鞘形成不良的脑白质营养不良7型(hypomyelinating leukodystrophy type 7,HLD7)病例。患者为53岁女性,表现为进行性加重的痉挛性步态和构音障碍,并伴部分感觉功能受累,幼儿时期有运动里程碑发育延迟和牙齿发育异常。MRI提示有脑白质病变和小脑萎缩。基因检测提示患者POLR3A基因存在复合杂合变异c.928T>A(p.W310R)和c.3295C>T(p.R1099C),该变异位点既往未见报告。本病以对症支持治疗为主。本文通过对该病例的报告及文献回顾,期望提高对HLD7及POLR3-HLD疾病谱系的认识,并为临床诊治提供参考。
文摘A 42-year-old woman,born to non-consanguineous parents with no family history of neurological diseases,suffered from ataxia for 3 years.After a normal psychomotor development,the patient first presented dental eruption at 1-year-old and with absence at 5 years of age.She stopped growing when she was 15 years old,and remained heights under 150 cm.Intellectual impairment became evident at 35 years old.Approximately 4 years ago (38 years old),she appeared secondary amenorrhea.Ataxia aggravated in the following 3 years and gradually affected daily life.On examinations,she has short stature [Supplementary Figure 1,http://links.lww.com/CM9/A61],tooth dysplasia and ataxia-related syndrome.There were no nystagmus,papilla atrophy or other visual problems.Her Mini-Mental State Examination (MMSE) score was 19,indicating mild intellectual disability.No contraceptives were used.She gave birth to a boy by making a cesarean section at 23-year-old,and her son was without any neurological symptom so far.Her parents died of other internal medicine diseases.Their gonads developed normally when they were alive.Only one brother who showed normal appearance and cognition was in her family.
