Carson M J, Slager U T, Steinberg R M
Am J Dis Child. 1977 Dec;131(12):1382-5. doi: 10.1001/archpedi.1977.02120250064010.
We report the cases of two siblings who died at age 21 and 15 years respectively. Both had optic atrophy, pitressinsensitive diabetes insipidus, and insulin-dependent diabetes mellitus, with onset occurring in early childhood. Although there are now 21 patients from 15 families with this syndrome, this is the first time that necropsy findings have become available. They include the expected atrophy of hypothalamic nuclei and degeneration of the optic nerves, chiasm and tract, as well as a totally unexpected degeneration of the pons and cerebellum.
我们报告了分别在21岁和15岁死亡的两例同胞病例。两人均患有视神经萎缩、加压素不敏感型尿崩症和胰岛素依赖型糖尿病，这些病症均在幼儿期发病。尽管目前已有来自15个家庭的21名患者患有此综合征，但这是首次获得尸检结果。结果包括预期的下丘脑核萎缩以及视神经、视交叉和视束的变性，还有桥脑和小脑完全出乎意料的变性。
