Coppeto J R, Lessell S
St. Mary's Hospital, Waterbury, CT.
Neurology. 1990 Sep;40(9):1359-63. doi: 10.1212/wnl.40.9.1359.
We report the clinical and laboratory findings in 2 siblings with a syndrome of pigmentary retinopathy, blepharospasm, and dystonia. This entity most resembles Hallervorden-Spatz disease, but appears to be a distinct disorder without identifiable neuroimaging or biochemical abnormalities.
我们报告了2例患有色素性视网膜病变、眼睑痉挛和肌张力障碍综合征的同胞的临床及实验室检查结果。该病症最类似于Hallervorden-Spatz病,但似乎是一种独特的疾病,没有可识别的神经影像学或生化异常。