Menkes病的临床特点

目的 通过对罕见疾病一Menkes病患者的病例报道,并复习相关文献,加深临床医生对该疾病的认识.方法 回顾性分析2018年9月-2019年8月广东三九脑科医院癫痫中心收治的3例确诊为Menkes病的患者病例资料,通过高通量测序筛选与Sanger测序验证癫痫致病基因,对3例先证者及两例父母进行突变基因验证,并进一步分析患...

Clinical characteristics of Menkes disease

Objective To improve the understanding of clinicians by reports and literature review of patients with rare diseases of Menkes disease.Methods High-throughput sequencing and Sanger sequencing were used to verify the genes of epilepsy,and the mutations were verified in three probands and two parents.The patient’s clinical manifestations,EEG,imaging,gene and prognostic characteristics were analyzed.Results All the three patients developed onset in infancy,with hair thinning and curling,and various forms of seizures.Three patients had epileptiform discharges during the EEG interval,and all clinical seizures were recorded.Skull MR showed white matter long T1,long T2 abnormal signal,cerebral artery tortuosity,proband 3 appeared subdural effusion.Three patients had poor efficacy after taking anti-epileptic drugs.The proband one and the proband two did not show significant progress after using histidine copper,but could not alleviate the existing neurological damage.Conclusion Menkes disease occurs frequently in infants,clinical manifestations may be different,some clinical manifestations may be atypical,and currently it is an incurable disease,but the use of histidine copper in the neonatal period can improve survival and reduce nervous system injury.It should be diagnosed early.and the treatment of indications should not be guided by the patient’s genotype.