Cockayne Syndrome. Report of three cases in a South African family of Indian origin.

Yacoob Y; Bill PLA; Patel V

摘要

Cockayne Syndrome (CS) is a multisystem photosensitive genetic disorder due to a defect in DNA repair. The hallmarks of Cockayne syndrome are postnatal growth failure and progressive neurological dysfunction. We describe three patients; A 23 year old female with psychomotor and growth retardation, difficulty with ambulation and impaired hearing and her 2 cousins; a 17 year old male and his 13 year old brother both referred with similar problems. The mothers of the patients are sisters and their fathers are brothers. Introduction Cockayne Syndrome (CS) is a multisystem photosensitive genetic disorder due to a defect in DNA repair. The hallmarks of Cockayne syndrome are postnatal growth failure and progressive neurological dysfunction. We describe three patients; A 23 year old female with psychomotor and growth retardation, difficulty with ambulation and impaired hearing and her 2 cousins; a 17 year old male and his 13 year old brother both referred with similar problems. The mothers of the patients are sisters and their fathers are brothers. Case A A 23-year-old Asian female presented with short stature, deafness, mental retardation and difficulty with ambulation. She was born following an uncomplicated pregnancy and delivery. Her motor milestones were delayed. She was able to function normally as an 8 year old and attended mainstream school. After the age of 9 she showed gradual cognitive deterioration and eventually became dependant for most of her activities of daily living. She was unable to communicate basic needs, experienced increased skin sensitivity to sunlight and had progressive imbalance. She had poor appetite and stopped growing after the age of 8. Both parents were normal with no other family history of a similar problem in previous generations.Her weight and height were below the 5th percentile for age. She had a progeroid appearance with a beaked nose, reduced subcutaneous fat and large sunken eyes. Skin examination revealed an erythematous rash in a butterfly distribution on her face. She had bilateral conjunctival injections with corneal ulcerations.(Fig. 1)Central nervous system examination revealed severe mental retardation and she was only able to communicate a few words. Her speech was dysarthric. There was bilateral sensori-neural deafness. Her power and tone were normal. Tendon reflexes were symmetrically brisk and the plantar responses were flexor. Sensation was normal. Co-ordination was normal in the upper limbs and ataxic in the lower limbs. Her gait was broad–based and ataxic.The following blood tests were normal: Full blood count, urea and electrolytes, liver function tests, creatinine kinase, lipid profile, glucose, follicular stimulating hormone, luetenising hormone, thyroid function test, oestradiol, growth hormone, Vitamin B12, folate and urine and serum osmolality. The prolactin level was elevated to 653,9uIU/ml (72-511). MRI scans of her brain revealed severe generalized cerebral and cerebellar atrophy with symmetrical periventricular T2 white matter hyperintensities. Bilateral basal ganglia calcification was present. MRI spine revealed generalized cord atrophy. Case B A 17-year-old male presented with short stature, deafness, poor balance and skin sensitivity to sunlight. Pregnancy and birth were normal and he had normal development until age 6. He subsequently had growth failure with learning difficulty and behavioral problems. He was able to feed, bathe and dress himself as well as communicate his basic needs. He could not read or write. He suffered frequent falls due to imbalance and would drag the lower limbs when walking. Examination revealed a short and underweight for age teenager with a high-pitched voice of nasal character. He exhibited poor co-operation during mental state examination but was able to communicate in full sentences and occasionally answer appropriately. Apart from bilateral sensori-neural hearing impairment, the rest of the cranial nerve examination, including fundusc

机译：由于DNA修复缺陷，Cockayne综合症（CS）是一种多系统的光遗传病。 Cockayne综合征的标志是产后生长衰竭和进行性神经功能障碍。我们描述了三个病人;一名23岁的女性，患有精神运动和发育迟缓，下肢活动困难和听力受损，以及她的两个表亲;一位17岁的男性和他13岁的兄弟都提到了类似的问题。病人的母亲是姐妹，父亲是兄弟。简介考卡因综合症（CS）是一种由于DNA修复缺陷引起的多系统光敏遗传病。 Cockayne综合征的标志是产后生长衰竭和进行性神经功能障碍。我们描述了三个病人;一名23岁的女性，患有精神运动和发育迟缓，下肢活动困难和听力受损，以及她的两个表亲;一个17岁的男性和他的13岁的兄弟都提到了类似的问题。患者的母亲是姐妹，父亲是兄弟。病例A一名23岁的亚洲女性，身材矮小，耳聋，智力低下和下床困难。她出生于简单的怀孕和分娩之后。她的运动里程碑被推迟了。她8岁就可以正常工作，就读主流学校。 9岁以后，她表现出逐渐的认知能力下降，并最终成为其大部分日常活动的依赖者。她无法传达基本需求，皮肤对日光的敏感性增加，并且逐渐失衡。她的食欲不佳，在8岁以后就停止了成长。父母双方都正常，没有其他家族史的前几代人。她的体重和身高在年龄的5岁以下。她的鼻子呈喙状早孕，皮下脂肪减少，眼睛沉没。皮肤检查发现脸上有蝴蝶状分布的红斑皮疹。她双眼结膜注射角膜溃疡。（图1）中枢神经系统检查显示严重智力低下，她只能说几句话。她的讲话很不讨人喜欢。出现双侧感觉神经性耳聋。她的力量和语气是正常的。肌腱反射对称性活跃，足底反应呈屈曲性。感觉正常。上肢协调正常，下肢共济失调。她的步态宽广且共济失调。以下血液检查正常：全血细胞计数，尿素和电解质，肝功能检查，肌酐激酶，脂质分布，葡萄糖，卵泡刺激素，催乳激素，甲状腺功能检查，雌二醇，生长激素，维生素B12，叶酸和尿液以及血清渗透压。催乳素水平升高至653.9uIU / ml（72-511）。大脑的MRI扫描显示严重的广泛性脑和小脑萎缩，脑室周围T2对称性白质过高。存在双侧基底神经节钙化。 MRI脊柱显示广泛性脊髓萎缩。病例B一名17岁的男性，身材矮小，耳聋，平衡差，并且皮肤对日光敏感。怀孕和分娩是正常的，直到6岁，他的发育都正常。随后，他由于学习困难和行为问题而出现了生长障碍。他能够进食，洗澡和穿衣服，并传达他的基本需求。他不会读书或写字。由于不平衡，他经常摔倒，走路时会拖拽下肢。检查显示，该年龄段的青少年体重较轻且体重不足，鼻音很高。他在精神状态检查过程中表现出较差的合作能力，但能够完整地进行交流，偶尔会做出适当的回答。除双侧感觉神经性听力障碍外，其余颅神经检查（包括眼底）

Cockayne Syndrome. Report of three cases in a South African family of Indian origin.

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