Typical Cockayne Syndrome: A Report of One Case and the Literature Review_West China Medical Journal

Authors：

 TanHuiwen ¹ , LüXiafei ¹ , YuYerong ¹ , LiuQilin ¹ , LiXiaohong ² ,  LiJianwei ¹

1. Department of Endocrinology and Metabolism, West China Hospital;
2. China Birth Defects Monitoring Center, West China Second University Hospital;Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding?author：

LiJianwei, Email: jerryliufl@gmail.com

Keywords：

Cockayne syndrome; Growth failure; Mental retardation

DOI：

10.7507/1002-0179.20160005

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Objective To recognize and carry out early diagnosis for Cockayne syndrome (CS) as it is an extremely rare auto-recessive genetic syndrome characterized by multiple symptoms including growth failure and impaired development of the nervous system. Methods Here we reported a case of typical CS with an unusual appearance. The 19-year-old young male patient was referred to West China Hospital on December 24th 2012. We analyzed the clinical characteristics of the patient and followed the literature review to help improve the knowledge on CS for clinicians. Results The patient's parents were cousins. Laboratory data showed that lipoprotein profile, blood glucose and electrolytes, liver and renal function, as well as hormones (thyroxin, para-thyroxin, growth hormones, adrenocorticotropic hormone, corticosteroid) were all within normal limit. Electronic hearing examination showed moderate neural hearing loss. CT scan indicated multiple intracranial calcifications. The patient was definitely diagnosed with CS. He received nutritional support and symptomatic treatment but discharged due to lack of effective treatment. Conclusion CS is a progressive multisystem disorder characterized by a specific cellular defect in transcription-coupled repair. Typical features include developmental delay and impaired development of the nervous system. Typical clinical manifestations and imaging changes are helpful for clinical diagnosis of CS. Genotyping is necessary for patients with CS. Unfortunately, there is no ideal treatment for CS. Most of the patients with CS have poor prognosis.

Citation： TanHuiwen, LüXiafei, YuYerong, LiuQilin, LiXiaohong, LiJianwei. Typical Cockayne Syndrome: A Report of One Case and the Literature Review. West China Medical Journal, 2016, 31(1): 17-20. doi: 10.7507/1002-0179.20160005 Copy

1.	Nance MA, Berry SA. Cockayne syndrome:review of 140 cases[J]. Am J Med Genet, 1992, 42(1):68-84.
2.	Hanawalt PC. DNA repair. The bases for Cockayne syndrome[J]. Nature, 2000, 405(6785):415-416.
3.	Inoue T, Sano N, Ito Y, et al. An adult case of Cockayne syndrome without sclerotic angiopathy[J]. Intern Med, 1997, 36(8):565-570.
4.	虞雄鷹, 鐘建民, 吳華平. Cockayne綜合征1例[J]. 實用兒科臨床雜志, 2010, 25(2):153-154.
5.	張惠文, 王慕逖, 林漢華. Cockayne綜合征一例[J]. 中華兒科雜志, 2002, 40(5):64.
6.	趙振宇. 李麗. Cockayne綜合征一例[J]. 中華醫學遺傳學雜志, 2015, 32(3):455-456.
7.	王雪梅, 崔蘊璞, 劉云峰, 等. 科卡因綜合征[J]. 中國當代兒科雜志, 2011, 13(2):141-144.
8.	Koob M, Laugel V, Durand M, et al. Neuroimaging in cockayne syndrome[J]. AJNR Am J Neuroradiol, 2010, 31(9):1623-1630.
9.	Brooks PJ. Blinded by the UV light:how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease[J]. DNA Repair (Amst), 2013, 12(8):656-671.

1. Nance MA, Berry SA. Cockayne syndrome:review of 140 cases[J]. Am J Med Genet, 1992, 42(1):68-84.
2. Hanawalt PC. DNA repair. The bases for Cockayne syndrome[J]. Nature, 2000, 405(6785):415-416.
3. Inoue T, Sano N, Ito Y, et al. An adult case of Cockayne syndrome without sclerotic angiopathy[J]. Intern Med, 1997, 36(8):565-570.
4. 虞雄鷹, 鐘建民, 吳華平. Cockayne綜合征1例[J]. 實用兒科臨床雜志, 2010, 25(2):153-154.
5. 張惠文, 王慕逖, 林漢華. Cockayne綜合征一例[J]. 中華兒科雜志, 2002, 40(5):64.
6. 趙振宇. 李麗. Cockayne綜合征一例[J]. 中華醫學遺傳學雜志, 2015, 32(3):455-456.
7. 王雪梅, 崔蘊璞, 劉云峰, 等. 科卡因綜合征[J]. 中國當代兒科雜志, 2011, 13(2):141-144.
8. Koob M, Laugel V, Durand M, et al. Neuroimaging in cockayne syndrome[J]. AJNR Am J Neuroradiol, 2010, 31(9):1623-1630.
9. Brooks PJ. Blinded by the UV light:how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease[J]. DNA Repair (Amst), 2013, 12(8):656-671.

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West China Medical Journal

Typical Cockayne Syndrome: A Report of One Case and the Literature Review

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