Keuss Sarah E, Ironside James W, O'Riordan Jonathan
Department of Neurology, Ninewells Hospital, Dundee, Tayside, UK.
Department of Clinical Brain Sciences, National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Edinburgh, UK.
BMJ Case Rep. 2017 Nov 1;2017:bcr-2017-220907. doi: 10.1136/bcr-2017-220907.
We describe a 37-year-old woman who presented with progressive deafness, visual loss and ataxia. She latterly developed neuropsychiatric problems, including cognitive impairment, paranoid delusions and episodes of altered consciousness. She was found to be heterozygous for the Q212P mutation in the prion protein gene. She died over a decade after initial presentation and a diagnosis of prion disease was confirmed at postmortem.
我们描述了一位37岁女性，她出现进行性耳聋、视力丧失和共济失调。她后来出现神经精神问题，包括认知障碍、偏执妄想和意识改变发作。发现她在朊病毒蛋白基因中存在Q212P突变的杂合子。她在首次就诊十多年后死亡，尸检确诊为朊病毒病。
