Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
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Nathalie 综合征颞骨的临床随访和组织病理学。
DOI：
10.1159/000336212
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发表时间：
2012
影响因子：
1.6
通讯作者：
Cremers,CorWRJ
中科院分区：
文献类型：
--
作者：
deHeer,Anne-MartineR;Merchant,SaumilN;Kammeraad,JannekeAE;Cruysberg,JohannesRM;Huygen,PatrickLM;Cremers,CorWRJ
Nathalie综合征（OMIM 255990）包括与任何其他已知综合征不相似的特征组合，因此是一种独立的罕见实体。其特征是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、生长迟缓、第二性征发育不全和心肌病。在世界范围内，只有一个家庭患有这种综合征。更新的临床后续行动在这个家庭和尸检的结果。听力测定显示了一个下坡的配置，对应的结果在耳蜗的组织病理学检查：弥漫性萎缩的器官的Corti，严重和弥漫性萎缩的纹血管和中度损失的耳蜗神经元在所有回合。另一个新的显著特征是，患有Nathalie综合征的个体预期寿命缩短，有猝死或死于（扩张型）心肌病引起的心力衰竭的风险。
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.