Cremers C W, Wijdeveld P G, Pinckers A J
Acta Paediatr Scand Suppl. 1977(264):1-16. doi: 10.1111/j.1651-2227.1977.tb15069.x.
A review of 88 cases from the literature with personal observations on 3 new patients is given of the syndrome featured by juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities. The postmortem in one of our cases is mentioned. The pattern of inheritance is autosomal recessive. The interpretation of the data on diabetes insipidus from the literature and in our three patients is also discussed. It can only be stated that neurohypophyseal diabetes insipidus can be a component of the syndrome and that in many cases--particularly in the presence of lesions of the efferent urinary tract--the possibility of nephrogenous diabetes insipidus can not be excluded with certainty. It seems probable that the same mechanism can be held responsible for the lesions of the olfactory, optic, vestibular and cochlear nerves, the hypophyseal form of diabetes insipidus, retarded sexual maturation, abnormal pupillary reaction, myelopathy and the electro-encephalographic, electroneurological and electromyographic changes in the Wolfram syndrome. The process underlying this affection of neural structures remains obscure.
本文回顾了文献中的88例病例，并对3例新患者进行了个人观察，该综合征的特征为青少年糖尿病、视神经萎缩、听力丧失、尿崩症、泌尿道和膀胱无张力及其他异常。文中提及了我们其中1例病例的尸检情况。其遗传模式为常染色体隐性遗传。同时还讨论了文献及我们的3例患者中关于尿崩症的数据解读。只能说神经垂体性尿崩症可能是该综合征的一个组成部分，而且在许多情况下——尤其是存在传出尿路病变时——不能肯定地排除肾性尿崩症的可能性。嗅觉、视觉、前庭和耳蜗神经病变、垂体性尿崩症、性成熟延迟、瞳孔反应异常、脊髓病以及Wolfram综合征中的脑电图、神经电生理和肌电图改变，似乎可能由同一机制引起。这种神经结构病变的潜在过程仍不清楚。
