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科凯恩综合征:病例报告。

Cockayne's syndrome: case report.

作者信息

Crome L, Kanjilal G C

出版信息

J Neurol Neurosurg Psychiatry. 1971 Apr;34(2):171-8. doi: 10.1136/jnnp.34.2.171.

Abstract

The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were severe microencephaly, widespread calcifying vasopathy with some secondary degenerative changes in the contiguous tissue, and granular ependymitis.

摘要

一例新的非家族性科凯恩综合征病例的临床特征包括常见症状

侏儒症伴小头畸形、严重智力低下、面部早衰样外观、色素性视网膜病变和严重的感音神经性耳聋。该患者还患有大发作癫痫,并在22岁时死于癫痫持续状态。神经病理学检查结果为严重小头畸形、广泛的钙化性血管病,相邻组织有一些继发性退行性改变,以及颗粒性室管膜炎。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8eb/493729/5601c76aeb9a/jnnpsyc00212-0060-a.jpg

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