A DNA-REPAIR DEFECT IN A PATIENT WITH ATAXIA, MENTAL-RETARDATION, ANDSHORT STATURE

A 12-year-old girl developed ataxia that gradually progressed. At age 18 the patient presented with mental retardation, cachectic dwarfism, microcephalus, and a progeroid appearance but no photosensitive skin l esions or deafness. On analysis of fibroblasts, unscheduled DNA synthe sis was reduced to 50% of normal, but colony-forming ability after ult raviolet irradiation was normal. The symptoms and phenotype of the pat ient were distinguished from those in Cockayne syndrome and xeroderma pigmentosum. This case is interesting because the defect in DNA repair after ultraviolet irradiation was detected in a patient with neurolog ic disturbances but without photosensitive skin lesions. (C) 1998 by E lsevier Science Inc, All rights reserved.