Yamagata T, Momoi M Y, Saitoh S, Takadaya K, Sato K
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Pediatr Neurol. 1998 Apr;18(4):358-61. doi: 10.1016/s0887-8994(97)00207-5.
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 lesions or deafness. On analysis of fibroblasts, unscheduled DNA synthesis was reduced to 50% of normal, but colony-forming ability after ultraviolet irradiation was normal. The symptoms and phenotype of the patient 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 neurologic disturbances but without photosensitive skin lesions.
一名12岁女孩出现进行性共济失调。18岁时，该患者出现智力发育迟缓、恶病质侏儒症、小头畸形和早老样面容，但无光敏性皮肤病变或耳聋。对成纤维细胞进行分析时，非预定DNA合成减少至正常水平的50%，但紫外线照射后的集落形成能力正常。该患者的症状和表型与科凯恩综合征和着色性干皮病患者不同。这个病例很有意思，因为在一名有神经功能障碍但无光敏性皮肤病变的患者中检测到了紫外线照射后DNA修复缺陷。
