一名非犹太儿童的家族性自主神经功能异常
Familial dysautonomia in a non-Jewish child.
作者信息
Orbeck H, Oftedal G
出版信息
Acta Paediatr Scand. 1977 Nov;66(6):777-81. doi: 10.1111/j.1651-2227.1977.tb07988.x.
Abstract
Few documented cases of Riley-Day syndrome fulfilling current diagnostic criteria have been recognized in non-Jews. In our case the diagnosis was established in a Norwegian child despite the absence of Jewish origin. It represents a report of this syndrome with bilateral pathological changes in the hypothalamus in addition to extensive abnormal findings in the spinal cord and the autonomic ganglia. These findings may have significance with regard to the pathogenesis of the disease.
摘要
在非犹太人中，符合当前诊断标准的家族性自主神经功能异常综合征（Riley-Day syndrome）的记录病例很少。在我们的病例中，尽管该挪威儿童没有犹太血统，但仍确诊为此病。本文报告了该综合征，其除了脊髓和自主神经节有广泛异常表现外，下丘脑还出现双侧病理改变。这些发现可能对该疾病的发病机制具有重要意义。
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