超微结构研究在婴儿型和晚婴儿型蜡样脂褐质沉积症诊断中的应用
An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis.
作者信息
Arsénio-Nunes M L, Goutières F
出版信息
J Neurol Neurosurg Psychiatry. 1975 Oct;38(10):994-9. doi: 10.1136/jnnp.38.10.994.
Abstract
A skin biopsy was carried out in two children suffering from early infantile (Santavuori) and late infantile (Jansky-Bielschowsky) types of ceroid-lipofuscinosis. In both cases cytoplasmic inclusions, identical with those found in neurones, were present in the skin. Skin biopsy thus appears as a simple technique for the diagnosis of the ceroid-lipofuscinoses.
摘要
对两名患有早期婴儿型（桑塔沃里型）和晚期婴儿型（扬斯基-比尔绍夫斯基型）蜡样脂褐质沉积症的儿童进行了皮肤活检。在这两个病例中，皮肤中均出现了与神经元中发现的相同的细胞质内含物。因此，皮肤活检似乎是诊断蜡样脂褐质沉积症的一种简单技术。
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