Cockayne syndrome with marked cerebral involvement

The course of Cockayne syndrome is reported in two sisters over a period of 14 years. Both girls developed characteristic clinical signs early. Reachi ng the second decade progeria and psychomotor deficits progressed quickly w ith a marked mental decline brought about by the cerebral destruction which is demonstrated by successive CT nd MRI scan. The effects of defective DNA repair mechanisms on progeria and mental deterioration are discussed and d ifferential diagnoses are shown.