Newell F W, Johnson R O, Huttenlocher P R
Am J Ophthalmol. 1979 Sep;88(3 Pt 1):467-71. doi: 10.1016/0002-9394(79)90648-2.
Dizygotic twins developed a progressive neurologic disorder at age 6 months. When examined at age 7 1/2 years each had spastic quadriparesis and dystonia. Neither had ever spoken a complete sentence. The fundi showed bone spicule formation, a conspicuous choroidal circulation, and a striking accumulation of yellowish-white globular masses of varying sizes and shapes. Because our patients developed both the pigmentary degeneration and clinical signs of Hallervorden-Spatz syndrome at a much younger age than patients without retinopathy, we believe this case demonstrated a distinct nosologic entity.
双卵双胞胎在6个月大时出现进行性神经疾病。在7岁半接受检查时，两人均有痉挛性四肢瘫和肌张力障碍。两人都从未完整说过一句话。眼底显示有骨针形成、明显的脉络膜循环，以及大量大小和形状各异的黄白色球状团块显著积聚。由于我们的患者比没有视网膜病变的患者在更年轻的时候就出现了色素性变性和Hallervorden-Spatz综合征的临床体征，我们认为该病例显示了一种独特的疾病实体。
