Department of Neurology, Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang, Republic of Korea.
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
J Alzheimers Dis. 2021;83(3):1025-1031. doi: 10.3233/JAD-210650.
Atypical psychological symptoms frequently occur in early-onset Alzheimer's disease (EOAD), which makes it difficult to differentiate it from other psychiatric disorders. We report the case of a 28-year-old woman with EOAD, carrying a presenilin-1 mutation (S170P), who was initially misdiagnosed with schizophrenia because of prominent psychiatric symptoms in the first 1-2 years of the disease. Amyloid-β positron emission tomography (PET) showed remarkably high tracer uptake in the striatum and thalamus. Tau PET showed widespread cortical uptake and relatively low uptake in the subcortical and medial temporal regions. Our case advocates for considering EOAD diagnosis for young patients with psychiatric and atypical cognitive symptoms.
早发性阿尔茨海默病（EOAD）常出现非典型的心理症状，使其难以与其他精神障碍相鉴别。我们报告了 1 例携带早发性阿尔茨海默病 presenilin-1 突变（S170P）的 28 岁女性患者，其首发症状为突出的精神症状，在疾病的最初 1-2 年内被误诊为精神分裂症。淀粉样蛋白-β正电子发射断层扫描（PET）显示纹状体和丘脑有明显的高示踪剂摄取。tau PET 显示广泛的皮质摄取，而皮质下和内侧颞叶区域摄取相对较低。我们的病例提倡对有精神和非典型认知症状的年轻患者考虑 EOAD 诊断。
