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同卵双胞胎中伴有苍白球色素沉着和脂褐质沉积的全身性婴儿神经轴索性营养不良(作者译)

[Generalized infantile neuroaxonal dystrophies with pigmentation and lipophanerosis of the pallidum in concordant twins (author's transl)].

作者信息

Peiffer J, Brunner N, Landolt R F, Müller G, Schlote W

出版信息

Neuropadiatrie. 1976 Aug;7(3):327-50. doi: 10.1055/s-0028-1091634.

Abstract

Monozygotic male twins died at the age of 6 1/2 and 7 1/2 years respectively after a progressive course of mental deterioration, hypotonia, spasticity, optic atrophy and seizures that had commenced at the age of 2 years. Both patients showed generalized neuroaxonal dystrophy (NAD), marked by numerous spheroids, iron-positive pigment and lipophanerosis of the pallidum. NAD can be classified as a generalized form without pigmentation of the pallidum (infantile type of Seitelberger), a juvenile type of Rozdilsky, a generalized form with pigmentation (cases described here), and localized forms (infantile, late infantile, juvenile = classic Hallervorden-Spatz disease, adult types).

摘要

同卵男性双胞胎在两岁时开始出现进行性智力衰退、肌张力减退、痉挛、视神经萎缩和癫痫发作,分别于6岁半和7岁半时死亡。两名患者均表现为全身性神经轴索性营养不良(NAD),其特征为苍白球出现大量球形小体、铁阳性色素和类脂质沉积。NAD可分为无苍白球色素沉着的全身性形式(Seitelberger婴儿型)、Rozdilsky青少年型、有色素沉着的全身性形式(此处描述的病例)以及局限性形式(婴儿型、晚婴儿型、青少年型=经典的Hallervorden-Spatz病、成人型)。

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