Text Box: MENKES SYNDROME Li G Q, Yin X S Helongjiang Provincal Red Cross Hospital, China Objective: Menkes syndrome is a kind of recessive sex-linked hereditary disease, of which there have been 2cades in our country. Methods: Now we report another, an 11 months boy who has had recurring convulsions during nine months remarkably retarded physical mental and motorial development are the main manifestations, other characteristic symptoms in dad a idiotic face, skin dispigmontation and kinky, brittle, faded hair. The patient has a stiff-neck, hyperkinetic in the arms and legs and heightened tendon refles. He tends to maintain a cross-legged position. CT-scan showed general encephala trophy and he had rarefaction of bone on x-gram. Laboratory test: Hb, 66g/L and unequally sized RBC with light -colored center. WBC: 5.4×109/L.S 19%.L 81%. Serum-Cu, 5.57 µmol/L (13.3-18.6). Cerulop'asmin pr 0.06g/L (0.18-0.45g/L) urinous femic trichloride(-). Results: Menkes syndrome is a kind of sex-linked hereditary metabolism disorder of copper .It only occurs in male infants. From birth to three months, intelligence development becomes increasingly less, accompanied by general development malfunction, convulsions and various skin and hair alterations. Menkes believed that the mutation of Cu-haptoglobin in intestinal mucous membranes interfered release of Cu++ and the absorption of Cu decreased. The other reason is insufficient ingestion .As cofactor, Cu takes part in syntheses of many kinds of enzymes. Deficiency of Cu reduces the activity of tyrosine. Leading to the pilary and Cutaneous de coloration. And reduction of the activity of cytochrome oxidase leads to development retardation. Conclusions: Diagnosis: Mainly based on symptoms of hair alterations,skin dispigmentation convulsions and suspended mental development. Final diagnosis confirmed by Cu decrease. Therapy: supply mentation of Cu improves the condition to a certain extent, but can’t reverse central neural system deterioration, without proper treatment, the average life expectancy is 19 months. 1149