Peiffer J, Brunner N, Landolt R F, Müller G, Schlote W
Neuropadiatrie. 1976 Aug;7(3):327-50. doi: 10.1055/s-0028-1091634.
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).
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)。