de Heer Anne-Martine R, Merchant Saumil N, Kammeraad Janneke A E, Cruysberg Johannes R M, Huygen Patrick L M, Cremers Cor W R J
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Audiol Neurootol. 2012;17(4):219-27. doi: 10.1159/000336212. Epub 2012 Apr 5.
The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. It is characterized by sensorineural hearing impairment, juvenile cataract, spinal muscular atrophy, skeletal abnormalities, retardation of growth, underdeveloped secondary gender characteristics and cardiomyopathy. Worldwide, only one family with this syndrome is known. An update of the clinical follow-up in this family and the results of autopsy are given. Audiometry showed a downsloping configuration that corresponded to the findings at histopathological examination of the cochlea: a diffuse atrophy of the organ of Corti, severe and diffuse atrophy of the stria vascularis and moderate loss of cochlear neurons in all turns. Another new striking feature is that individuals with the Nathalie syndrome have a shortened life expectancy with a risk of sudden death or death from heart failure resulting from (dilated) cardiomyopathy.
纳塔莉综合征（OMIM 255990）由一系列特征组成，这些特征与任何其他已知综合征均不相似，因此是一种独立的罕见病症。其特征包括感音神经性听力障碍、青少年白内障、脊髓性肌萎缩、骨骼异常、生长发育迟缓、第二性征发育不全以及心肌病。在全球范围内，仅知有一个家族患有此综合征。本文给出了该家族临床随访的最新情况以及尸检结果。听力测定显示为下坡型，这与耳蜗组织病理学检查结果相符：柯蒂氏器弥漫性萎缩、血管纹严重弥漫性萎缩以及各圈耳蜗神经元中度丧失。另一个新的显著特征是，患有纳塔莉综合征的个体预期寿命缩短，存在猝死风险或因（扩张型）心肌病导致心力衰竭死亡的风险。
