Menkes病的临床特点

Clinical characteristics of Menkes disease

目的通过对罕见疾病—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,并进一步分析患者临床表现、脑电图、影像学、基因和预后特点。结果3例先证者均在婴儿期起病,均出现头发稀疏、卷曲,癫痫发作形式多样,3例先证者脑电图间歇期均有癫痫样放电,均记录到临床癫痫发作。头部核磁共振成像可见白质长T1、长T2异常信号,脑动脉迂曲,先证者3出现硬膜下积液。3例先证者服用抗癫痫药物后疗效欠佳,先证者一及先证者二使用组氨酸铜后病情未见明显进展,但不能缓解已有的神经功能损伤。结论Menkes病多于婴儿期起病,临床表现可能轻重不一,部分临床表现可不典型,目前是不可治愈的疾病,但在新生儿期开始使用组氨酸铜治疗能提高生存率及减轻神经系统的损伤,应尽早诊断,治疗的适应证不应以患者的基因型为指导。

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.