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Cockayne综合征比较罕见,它的特点是恶病质样的侏儒症,主要累及中枢神经系统并有形态异常,以及耳聋、视网膜色素沉着和过早袁老。有人认为此综合症涉及胸腺及有关免疫机理。作者报道了7例Cockayne综合征患儿血浆内胸腺激素减少的情况。本组7例患儿(男4例,女3例),年龄2～17岁。诊断Cockayne综合征的根据是:(1)家族特点:7例患儿属于4个家庭。两例是亲姐弟;另3例是亲兄妹。(2)体形异常包括头小畸形,脸型瘦长,前额突出,皮下脂肪缺如。呈现过早衰老的面貌。(3)侏儒症:作者访问了3例患儿的成长过程;出生头2～18个月发育正常,以后突然减慢。
Cockayne syndrome is rare, it is characterized by cachexia-like dwarfism, mainly involving the central nervous system and morphological abnormalities, as well as deafness, retinal pigmentation and premature aging. Some people think that this syndrome involves the thymus and related immune mechanisms. The authors reported a decrease in plasma thymidine levels in seven children with Cockayne’s syndrome. The group of 7 patients (4 males and 3 females), aged 2 to 17 years. The basis for the diagnosis of Cockayne syndrome is: (1) family characteristics: 7 children belong to 4 families. Two cases are pro-siblings; the other three cases are brothers and sisters. (2) abnormal body shape, including small deformities, face thin, prominent forehead, subcutaneous fat absence. Showing the appearance of premature aging. (3) dwarfism: the author interviewed three cases of children’s growth process; birth of the first 2 to 18 months of normal development, after a sudden slow down.