科卡因综合征

王雪梅, 崔蕴璞, 刘云峰, 魏玲, 刘慧, 王新利, 郑卓肇

中国当代儿科杂志 ›› 2011, Vol. 13 ›› Issue (2) : 141-144.

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中国当代儿科杂志 ›› 2011, Vol. 13 ›› Issue (2) : 141-144.
疑难病研究

科卡因综合征

  • 王雪梅,崔蕴璞,刘云峰,魏玲,刘慧,王新利,郑卓肇
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Cockayne syndrome

  • WANG Xue-Mei, CUI Yun-Pu, LIU Yun-Feng, WEI Ling, LIU Hui, WANG Xin-Li, ZHENG Zhuo-Zhao
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摘要

科卡因综合征是一种罕见的常染色体隐性遗传病。本文报告1例临床表现为典型的科卡因综合征并经基因检查证实为CSA基因缺陷。患儿为7岁男孩,因反复脱皮及色素沉着伴生长发育落后6年、反复龋齿并牙齿脱落2年入院。查体发现体重、身高及头围均明显落后,头发黄,面部较多淡棕色色素沉着斑,皮肤干燥、弹性差,皮下脂肪减少,呈深眼窝,尖鼻,尖下颌,大耳廓,严重龋齿并有较多脱落。双下肢肌张力增高,步态不稳,腱反射亢进,踝关节背曲受限,发音不清。血胰岛素样生长因子Ⅰ水平降低,血、尿氨基酸、酯酰肉碱分析提示营养状况不佳,血生长激素、甲状腺激素、甲状旁腺激素及肝肾功能、血脂、血糖、电解质、血氨均正常,电反应测听检查提示中度神经性耳聋。眼部B超发现双眼轴小,右眼玻璃体混浊。头颅磁共振检查发现双侧大脑萎缩,双侧基底节区钙化,小脑半球及脑干明显萎缩,胼胝体萎缩。基因检测发现CSA基因缺陷,故明确诊断为科卡因综合征。因无特效治疗而出院。

Abstract

Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment.

关键词

科卡因综合征 / 生长发育落后 / 儿童

引用本文

导出引用
王雪梅, 崔蕴璞, 刘云峰, 魏玲, 刘慧, 王新利, 郑卓肇. 科卡因综合征[J]. 中国当代儿科杂志. 2011, 13(2): 141-144
WANG Xue-Mei, CUI Yun-Pu, LIU Yun-Feng, WEI Ling, LIU Hui, WANG Xin-Li, ZHENG Zhuo-Zhao. Cockayne syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2011, 13(2): 141-144
中图分类号: R596   

参考文献

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