A 42-year-old woman with 4H leukodystrophy caused by a homozygous mutation in POLR3A gene  

作　　者：Yi-Ming Yang Zhong-Min Zhao Yan-Li Jia Yang-Juan Jia Ning Han Jian-Hua Wang 

机构地区：[1]Department of Graduate School, Hebei North University, Zhangjiakou, Hebei 075000, China [2]Department of Neurology, Hebei General Hospital, Shijiazhuang, Hebei 050051, China [3]Department of Graduate School, Hebei Medical University, Shijiazhuang, Hebei 050000

出　　处：《Chinese Medical Journal》2019年第15期1879-1880,共2页中华医学杂志（英文版）

摘　　要：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.

关 键 词：HOMOZYGOUS MUTATION POLR3A GENE 

分 类 号：R[医药卫生]