[Menkes' kinky hair disease: report of one case]

A male infant, 2-month-old, was delivered normally at term. He weighed 3.0 Kg and was stated to be quite well until convulsion was presented at the age of 1 month. The convulsion was complex partial seizure in character. Physical examinations showed body weight 2.7 Kg (less than 3 percentile), body temperature 35.7 degrees C, opisthotonic in posture, staring of eyes and unawareness of the outside environment. His hair appeared sparse, coarse and light yellowish color. Laboratory examinations showed normal hemogram and cerebrospinal fluid data. Low serum copper (10 mg/dl), ceruloplasmin (13.5 mg/dl) and hair copper (9.73 ppm) were found. The EEG revealed paroxysmal sharp waves with phase reverses at right temporal and occipital area. Fundus examination showed bilateral optic atrophy. Microscopic examination of the hair showed pili torti (twisting) of the hair. The baby was persisted in hypothermia, poor activity and poor weight gain. The convulsion was poorly controlled and progressed in opisthotonus. The baby died of unknown cause at 3 months of age.