Kurimoto Jun, Kawakita Rie, Chiba Yuta, Morishita Asahiro, Masaki Tsutomu, Deguchi Kazushi, Kobara Hideki
Department of Gastroenterology and Neurology, Kagawa University Faculty of Medicine, Japan.
Intern Med. 2025 Apr 15;64(8):1249-1252. doi: 10.2169/internalmedicine.4196-24. Epub 2024 Sep 4.
A 46-year-old woman with Turner syndrome (TS) (45,X/46,X,idic(X)(p11.4) mosaic) presented with a fever, unresponsiveness, hyperhidrosis, and rigidity approximately one month after episodes of confusion and suicide attempts, prompting a diagnosis of schizophrenia. Cerebrospinal fluid (CSF) showed mild hypercellularity with oligoclonal bands. Brain and abdominal magnetic resonance imaging showed no abnormalities. Bizarre upper-extremity movements and spasms followed the trial administration of acyclovir, and autoimmune encephalitis was suspected. Intensive immunotherapy was initiated, and the symptoms improved. Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis was diagnosed based on the presence of anti-NMDAR antibodies in her spinal fluid. This case represents a rare presentation of anti-NMDAR encephalitis in TS, which is susceptible to autoimmune disease complications.
一名46岁患有特纳综合征（TS）（45,X/46,X,idic(X)(p11.4) 嵌合体）的女性，在出现意识模糊和自杀未遂发作后约一个月，出现发热、无反应、多汗和强直，促使诊断为精神分裂症。脑脊液（CSF）显示轻度细胞增多伴寡克隆带。脑和腹部磁共振成像未显示异常。试用阿昔洛韦后出现怪异的上肢运动和痉挛，怀疑为自身免疫性脑炎。开始强化免疫治疗，症状改善。根据其脑脊液中存在抗N-甲基-D-天冬氨酸受体（抗NMDAR）抗体，诊断为抗NMDAR脑炎。该病例代表了TS中抗NMDAR脑炎的罕见表现，TS易发生自身免疫性疾病并发症。
