[Clinical aspects of Menkes syndrome]

The difficulties of early diagnosis of Menkes' kinky hair syndrome are described guided by the clinical courses of three related patients. One of these children could be observed continuously from birth. Different from other descriptions the diagnostic value of the clinical features observed in our patients is estimated as follows: 1. severe cerebral degeneration with seizures in the first year of life; 2. subdural hygroma; 3. decreased levels of serum copper and serum coeruloplasmin; 4. hair abnormalities; 5. skin abnormalities. The diagnosis is likely, if serum copper and serum coeruloplasmin are decreased. The diagnosis is proved by increased copper uptake into cultured fibroblasts. The prenatal diagnosis is possible by chorionic villus biopsy or amniocentesis. The importance of carrier detection by cultured fibroblasts and subsequent genetic counselling is underlined.