Stevens Jessica M, Levine Matthew R, Constantino Anne E, Motamedi Gholam K
Department of Neurology, MedStar Georgetown University Hospital, Washington, District of Columbia, USA.
BMJ Case Rep. 2018 Jul 15;2018:bcr-2018-225155. doi: 10.1136/bcr-2018-225155.
Fatal familial insomnia (FFI) is a rare prion disease commonly inherited in an autosomal dominant pattern from a mutation in the PRioN Protein (PRNP) gene. Hashimoto's encephalopathy (HE) is characterised by encephalopathy associated with antithyroid peroxidase (TPO) or antithyroglobulin (Tg) antibodies. These two conditions characteristically have differing clinical presentations with dramatically different clinical course and outcomes. Here, we present a case of FFI mimicking HE. A woman in her 50s presented with worsening confusion, hallucinations, tremor and leg jerks. Several maternal relatives had been diagnosed with FFI, but the patient had had negative genetic testing for PRNP. MRI of brain, cervical and thoracic spine were unremarkable except for evidence of prior cervical transverse myelitis. Cerebrospinal fluid analysis was normal. Anti-TPO and anti-Tg antibodies were elevated. She was started on steroids for possible HE and showed improvement in symptoms. Following discharge, the results of her PRNP gene test returned positive for variant p.Asp178Asn.
致死性家族性失眠症（FFI）是一种罕见的朊病毒病，通常以常染色体显性模式遗传，由朊病毒蛋白（PRNP）基因突变引起。桥本脑病（HE）的特征是与抗甲状腺过氧化物酶（TPO）或抗甲状腺球蛋白（Tg）抗体相关的脑病。这两种病症的典型临床表现不同，临床病程和结果也有显著差异。在此，我们报告一例疑似HE的FFI病例。一名50多岁的女性出现意识混乱、幻觉、震颤和腿部抽搐加重的症状。她的几位母系亲属被诊断患有FFI，但该患者的PRNP基因检测结果为阴性。除了既往有颈髓横贯性脊髓炎的证据外，脑部、颈椎和胸椎的MRI检查均无异常。脑脊液分析正常。抗TPO和抗Tg抗体升高。她开始接受类固醇治疗以治疗可能的HE，症状有所改善。出院后，她的PRNP基因检测结果显示p.Asp178Asn变异呈阳性。
