以姿势平衡障碍为突出表现的家族性致死性失眠一例并文献复习

目的报道1例以姿势平衡障碍为突出表现的家族性致死性失眠(fatal familial insomnia,FFI)患者的临床表现和基因特点。方法分析1例以姿势平衡障碍、重复语言为突出表现,曾疑诊为进行性核上性麻痹(progressive supranuclear palsy,PSP)的FFI患者的临床特征、影像学特点、脑电图及多导睡眠监测等资料,并对患者血标本进行朊蛋白PRNP基因检测。结果本例患者为39岁女性,症状逐渐进展,主要表现为姿势平衡障碍、语速快、重复语言,快速进展的认知障碍,伴睡眠相关呼吸暂停、吸气性喘鸣,同时有血压高、出汗多、心动过速、呼吸不规律等自主神经症状。结合患者PRNP基因检测结果为D178N/129M型,最终诊断为FFI。结论吸气性喘鸣或"牛吼声"在FFI的诊断中有提示意义。姿势平衡障碍在FFI临床症状谱中相对罕见,129位氨基酸等位基因多态性为Met/Met纯合子的FFI患者早期以姿势不稳,向后倾倒为主要临床表现的FFI病例,国内鲜有报道。

Fatal familial insomnia presenting with posture instability and retropulsion:a case report and literature review

Objective To explore the clinical and genetic features in a case of fatal familial insomnia(FFI).Methods A case of 39 years old woman diagnosed as progressive supranuclear palsy based on the preliminary manifestation of imbalance and frequent falls was reported.The clinical features,imaging characteristics,electroencephalogram and polysomnography of the patient were analyzed,and the blood samples from the patient were collected for the sequencing of prion protein(PRNP)gene.Results This patient is a middle-aged woman,whose clinical manifestations were posture instability and retropulsion,rapid progressive dementia and dysarthria,sleep-related dyspnea and laryngeal stridor,with autonomic symptoms of hypertension,sweating,tachycardia and irregular breathing.The results of PRNP gene sequencing revealed that the mutation of gene D178N/129M was detected.Conclusions Laryngeal stridor plays an important role in the diagnosis of FFI.Posture instability and retropulsion are relatively rare in the FFI clinical symptom spectrum.Here,a case of FFI presenting with posture instability and retropulsion during the early stage with Met/Met at the polymorphic codon 129 is reported in China.