Cockayne综合征(cockayne syndrome,CS)是一种原因不明，进行性加重，并累及神经系统各部分的神经变性疾病，其发病率极低，常表现为智力发育落后、矮小症、光敏性皮炎、特殊面貌、听力障碍、视神经萎缩、视网膜变性等。
Cockayne syndrome (CS) is an unknown, progressive neurodegenerative disease that affects all parts of the nervous system. Its incidence is extremely low, and often manifests as mental retardation, dwarf syndrome, photosensitive dermatitis, special features, hearing impairment, optic nerve atrophy, retinal degeneration, etc.
◆病因
本综合征是一种罕见的人类染色体隐性遗传疾病。目前，人们已经鉴定出两个致病基因CSA与CSB,CSA位于人类第5号染色体，CSB位于人类第10号染色体10q11。
This syndrome is a rare human chromosome recessive genetic disease. Two disease-causing genes,CSA on chromosome 5 and CSB on chromosome 10Q11, have been identified.
CSA与CSB以某种方式参与最基本的转录，这些蛋白的突变可能引起了轻微的转录缺陷，从而导致患者的某些症状。另外一个假设是，病人对于某些类型的内源损伤具有缺陷，这样随着年龄的增长，损伤也会日积月累增多，基因的转录受阻会越来越严重，这就导致了病人严重神经退行性变及早亡现象。
CSA and CSB are involved in the most basic transcription in some way, and mutations in these proteins may cause minor transcription defects that lead to certain symptoms in patients. Another hypothesis is that patients are deficient in certain types of endogenous damage, so that the damage accumulates with age and the transcription of genes becomes more blocked, leading to severe neurodegeneration and early death.
◆临床表现
以早老为其特征，婴儿期正常，2岁后发病。主要临床表现为患者皮肤对紫外线(UV)敏感，并伴有神经、生理发育异常。
It is characterized by early aging, normal infancy, onset after 2 years old. Main clinical manifestation is patient skin is sensitive to ultraviolet ray (UV), accompany with nerve, physiology to develop abnormally.
1.大多数2岁以上的患者均具有显著的小头畸形，早老面容，少发，心智发育迟缓。
1. Most of the patients over 2 years old have significant microcephaly, premature aging, less hair, and mental retardation.
2.神经系统多种异常，以视觉、听觉、小脑及椎体外系的临床异常表现最为突出，如视网膜色素沉着、视神经萎缩、感觉神经性耳聋、小脑共济失调、震颤、智力低下、周围神经病、正常颅压脑积水及癫痫等。脑病理已证实有斑点状脱髓鞘，周围神经可有节段性脱髓鞘，脑皮质、基底节及小脑等处有钙、矿物质的沉着，以基底节最为明显。
2. A variety of neurological abnormalities, including visual, auditory, cerebellar and vertebral extracorporal clinical abnormalities are the most prominent, such as retinitis pigmentosa, optic nerve atrophy, sensory nerve deafness, cerebellar ataxia, tremor, mental retardation, peripheral neuropathy, normal cranial pressure hydrocephalus and epilepsy, etc. Cerebral pathology has proved that there is speckle demyelination, peripheral nerves can have segmental demyelination, cerebral cortex, basal ganglia and cerebellum and other places have calcium, mineral deposits, the basal ganglia is the most obvious.
3.日光性皮炎。
3. Solar dermatitis.
4.多发骨骼异常。
4. Multiple skeletal abnormalities.
5.肾功能及内分泌异常，发稀及少汗等。
5. Abnormal renal function and endocrine, thinning and less sweat, etc.
目前根据起病年龄和严重程度可分为三型：
Currently there are three types according to age of onset and severity:
I型为幼儿时期起病，且临床表现较重。
The onset of type I is early childhood and the clinical manifestations are severe.
Ⅱ型为严重型，起病较早，常出生早期(婴儿期)开始发病，且临床症状极严重，约占70%。
Ⅱ for serious, earlier onset, often born early (infant) come on, clinical symptoms and is extremely serious, about 70%.
Ⅲ型为温和型，起病年龄较晚，多见于学龄期儿童，且临床症状相对较轻。
Ⅲ for moderate, late onset age, see more at school-age children, and the clinical symptoms are relatively mild.
◆影像学表现
骨骼X线平片及CT扫描可见：颅板增厚，脊柱后侧突，长骨变细，干骺端增宽，椎骨扁平，髂骨翼变窄等。
Bone X-ray and CT scan showed: cranial plate thickening, posterior vertebral process, long bone thinning, metaphyseal broadening, vertebrae flattening, iliac wing narrowing, etc.
颅脑CT主要表现为脑内对称性钙化，以基底节区为著。
CT scan of the brain mainly presents symmetrical calcification in the brain, especially in the basal ganglia region.
