舍格伦-拉松综合征两例患者之一的病理检查结果

Pathological findings in one of two siblings with Sjögren-Larsson Syndrome.

作者信息

Silva C A, Saraiva A, Gonçalves V, de Sousa G, Martins R, Cruz C

出版信息

Eur Neurol. 1980;19(3):166-70. doi: 10.1159/000115142.

Abstract

The clinical features of 2 new cases of Sjögren-Larsson syndrome are described. Histopathological examination of the skin in 1 of the cases revealed an ichthyosis vulgaris, which does not agree with the clinical and genetic classification. In the same case, a neuroblastoma was the cause of death, and neuropathological examination showed a symmetrical demyelination of some ascending and descending long tracts in the medulla and spinal cord.

摘要

本文描述了2例新的舍格伦-拉尔松综合征病例的临床特征。其中1例病例的皮肤组织病理学检查显示为寻常型鱼鳞病，这与临床和基因分类不符。在同一病例中，神经母细胞瘤是死亡原因，神经病理学检查显示延髓和脊髓中一些升、降长束出现对称性脱髓鞘。