Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations:A case report  

作　　者：Xue-Qiang Wang Chuan-Bi Chen Wen-Jie Zhao Guang-Bin Fu Yu Zhai 

机构地区：[1]Department of Neurology,Sanya People’s Hospital,West China(Sanya)Hospital,Sichuan University,Sanya 572000,Hainan Province,China [2]Department of Pediatrics,Sanya Women and Children’s Hospital Managed by Shanghai Children's Medical Center,Sanya 572000,Hainan Province,China [3]Department of Neurology,The First Affiliated Hospital of Hainan Medical College,Haikou 570100,Hainan Province,China [4]Department of Neurology,Hainan Western Central Hospital,Danzhou 571799,Hainan Province,China

出　　处：《World Journal of Clinical Cases》2023年第15期3533-3541,共9页世界临床病例杂志

摘　　要：BACKGROUND Adult neuronal ceroid lipofuscinosis(ANCL)can be caused by compound heterozygous recessive mutations in CLN6.The main clinical features of the disease are neurodegeneration,progressive motor dysfunction,seizures,cognitive decline,ataxia,vision loss and premature death.CASE SUMMARY A 37-year-old female presented to our clinic with a 3-year history of limb weakness and gradually experiencing unstable walking.The patient was diagnosed with CLN6 type ANCL after the identification of mutations in the CLN6 gene.The patient was treated with antiepileptic drugs.The patient is under ongoing followup.Unfortunately,the patient’s condition has deteriorated,and she is currently unable to care for herself.CONCLUSION There is presently no effective treatment for ANCL.However,early diagnosis and symptomatic treatment are possible.

关 键 词：CLN6 Neuronal ceroid lipofuscinosis Genetic testing EPILEPSY ATAXIA Case report 

分 类 号：R741[医药卫生—神经病学与精神病学]