Abstract: ObjectiveTo investigate the clinical and laboratory characteristics of Menkes disease.MethodsThe clinical, laboratory, imaging and gene expression of 2 children diagnosed as Menkes's disease in 1 family were retrospectively analyzed.ResultsTwo children were all boys.The clinical manifestations of the younger brother began at 4 months after birth, including pale skin, pudgy cheeks, inguinal hernia, peculiar kinkyhair, funnel chest, epilepsy and mental retardation. The child's brother developed backward since childhood, and the rehabilitation treatment was invalid，died 1 year ago. Plasma ceruloplasmin in 2 cases was 80 mg·L-1 and 92.4 mg·L-1, respectively. Two children's hair was observed under the light microscope with distorted and beaded changes. The delayed myelination of the brain MRI, the changes of bilateral cerebral and cerebellar atrophy, the increase of the cerebral surface vascular circuitous, bilateral basal ganglia and the abnormal signal of the cerebral foot were observed in the probard. The brain MRA+MRV showed that the large arteries were circuitous, the branches of the arteries and the superficial vein twisted into a group. The child did not find the ATP7A gene existence of large fragment variation, However, there is a small variation of c.2172+5_2172TGAAG （TGAAT was inserted between the 5th and 6th nucleotides in intron after nucleotide 2 172 of coding region） in ATP7A gene, which is shear variation.The brother was the same as the heterotopic, and the mother was a normal carrier. ConclusionMenkes disease is a hereditary copper metabolic disorder. The main manifestations of the progressive neurodamage are the special facial features and hair changes, as well as the morphological changes of brain atrophy and cerebral vessels, combined with laboratory examination, head image and gene detection can be confirmed.