Tinsa Faten, Bellalah Manel, Brini Ines, Bousnina Dorra, Lehmann Alan, Boussetta Khadija, Bousnina Souad
Department of Pediatrics B of the Children's Hospital of Tunis, Tunis, Tunisia.
Tunis Med. 2009 Dec;87(12):877-9.
Cockayne syndrome is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. Classically, the onset of Cockayne syndrome starts in the second year of life. The failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful diagnostic test and the clinical feature that correlates most strongly with defective RNA synthesis is photosensitivity.
To report an unusual case of Cockayne Syndrome.
A case of a five-year-old girl with Cockayne with an onset in early infancy the girl and without photosensitivity is presented. The diagnosis was confirmed by the failure of RNA synthesis to recover to normal rate after UV-C irradiation. The patient died at the age of 6 of pneumonia.
Although rare, Cockayne syndrome may be presented without photosensitivity and had an early onset.
科凯恩综合征是一种罕见的常染色体隐性疾病，伴有侏儒症、智力迟钝以及其他临床异质性特征。典型情况下，科凯恩综合征在生命的第二年开始发病。紫外线C照射后RNA合成未能恢复到正常速率可提供一种有用的诊断测试，且与RNA合成缺陷关联最紧密的临床特征是光敏性。
报告一例不寻常的科凯恩综合征病例。
本文介绍了一名5岁患有科凯恩综合征的女孩，该女孩在婴儿早期发病且无光敏性。紫外线C照射后RNA合成未能恢复到正常速率，从而确诊。该患者于6岁时死于肺炎。
尽管罕见，但科凯恩综合征可能无光敏性且发病较早。
