Urquidi G A, Topaz A M
Acta Neurol Latinoam. 1979;25(1-2):75-9.
A family of 6 siblings, 4 of which have Hallgren's syndrome, i.e., retinitis pigmentosa, congenital deafness and ataxia is described. Hallgren's series in Sweden is referred to. This affection was ascribed by Hallgren to a single gene with almost complete penetrance. However, 3 brothers of the present series show neurological anomalies not present in the Swedish cases.
报道了一个有6个兄弟姐妹的家庭,其中4人患有哈尔格林综合征,即色素性视网膜炎、先天性耳聋和共济失调。文中提及了瑞典的哈尔格林病例系列。哈尔格林认为这种病症是由一个几乎完全外显的单基因引起的。然而,本病例系列中的3名兄弟表现出瑞典病例中未出现的神经学异常。