ObjectiveTo improve the understanding of clinicians by reports and literature review of patients with rare diseases of Menkes disease.MethodsHigh-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.ResultsAll 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.ConclusionMenkes 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.