Neuronal ceroid lipofuscinosis with hypergonadotropic hypogonadism.
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.
D000328:Adult; D002524:Cerebellar Ataxia / Q000209:etiology; D002819:Chorea / Q000209:etiology; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications*