伴有高促性腺激素性性腺功能减退的神经元蜡样脂褐质沉积症。
Neuronal ceroid lipofuscinosis with hypergonadotropic hypogonadism.
作者信息
Nass R, Petito C, Stoner E, New M
出版信息
J Child Neurol. 1986 Apr;1(2):142-4. doi: 10.1177/088307388600100209.
PMID:3598119
Abstract
A case of adolescent-onset neuronal ceroid lipofuscinosis presenting with chorea and evidencing pyramidal and cerebellar dysfunction as well as hypergonadotropic hypogonadism is reported. In this patient, primary ovarian failure may be due to accumulation of ceroid in the ovaries.
摘要
报告了一例青少年期起病的神经元蜡样脂褐质沉积症，表现为舞蹈症，伴有锥体束和小脑功能障碍以及高促性腺激素性性腺功能减退。在该患者中，原发性卵巢功能衰竭可能是由于蜡样质在卵巢中蓄积所致。
Zotero 插件