Takashi Katakami, Takehiro Ueda, Manabu Nagata, Kimiko Inoue, Yasuhumi Kageyama
{"title":"[一例 CARD9 缺乏症患者的念珠菌脑膜炎:尸检报告]。","authors":"Takashi Katakami, Takehiro Ueda, Manabu Nagata, Kimiko Inoue, Yasuhumi Kageyama","doi":"10.5692/clinicalneurol.cn-001980","DOIUrl":null,"url":null,"abstract":"<p><p>Here we present the case of a 23-year-old female with a history of onychomycosis and oral thrush since childhood. She presented with a gradual onset of headache, and cerebrospinal fluid (CSF) analysis on admission revealed an elevated mononuclear cell count. Hydrocephalus was observed on brain MRI. Candida albicans (C. albicans) was detected in the CSF, and antifungal treatment was initiated to diagnose of Candida meningitis. Due to an insufficient therapeutic response, intraventricular administration of liposomal amphotericin B initiated; however, the lesions persisted. Subsequently, the patient experienced repeated occlusions of the ventriculoperitoneal shunt tube, ultimately dying from a bacterial shunt infection. Autopsy findings revealed diffuse fungal proliferation on the surface of the brainstem and ventricular walls. Genetic testing confirmed a diagnosis of CARD9 deficiency. Although CARD9 deficiency is a rare disease, genetic testing should be considered when primary immunodeficiency is suspected.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"648-653"},"PeriodicalIF":0.0000,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[A case of Candida meningitis in a patient with CARD9 deficiency: an autopsy report].\",\"authors\":\"Takashi Katakami, Takehiro Ueda, Manabu Nagata, Kimiko Inoue, Yasuhumi Kageyama\",\"doi\":\"10.5692/clinicalneurol.cn-001980\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Here we present the case of a 23-year-old female with a history of onychomycosis and oral thrush since childhood. She presented with a gradual onset of headache, and cerebrospinal fluid (CSF) analysis on admission revealed an elevated mononuclear cell count. Hydrocephalus was observed on brain MRI. Candida albicans (C. albicans) was detected in the CSF, and antifungal treatment was initiated to diagnose of Candida meningitis. Due to an insufficient therapeutic response, intraventricular administration of liposomal amphotericin B initiated; however, the lesions persisted. Subsequently, the patient experienced repeated occlusions of the ventriculoperitoneal shunt tube, ultimately dying from a bacterial shunt infection. Autopsy findings revealed diffuse fungal proliferation on the surface of the brainstem and ventricular walls. Genetic testing confirmed a diagnosis of CARD9 deficiency. Although CARD9 deficiency is a rare disease, genetic testing should be considered when primary immunodeficiency is suspected.</p>\",\"PeriodicalId\":39292,\"journal\":{\"name\":\"Clinical Neurology\",\"volume\":\" \",\"pages\":\"648-653\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-09-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5692/clinicalneurol.cn-001980\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/24 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5692/clinicalneurol.cn-001980","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/24 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
摘要
这里我们要介绍的是一名 23 岁女性的病例,她自幼患有甲癣和口腔鹅口疮。入院时脑脊液(CSF)分析显示单核细胞计数升高。脑部核磁共振成像检查发现脑积水。在脑脊液中检测到白色念珠菌(C. albicans),并开始进行抗真菌治疗,以诊断为念珠菌性脑膜炎。由于治疗效果不佳,患者开始静脉注射两性霉素 B 脂质体,但病变仍在持续。随后,患者的脑室腹腔分流管反复闭塞,最终死于分流管细菌感染。尸检结果显示,脑干和脑室壁表面有弥漫性真菌增生。基因检测确诊为 CARD9 缺乏症。虽然CARD9缺乏症是一种罕见疾病,但在怀疑有原发性免疫缺陷时,应考虑进行基因检测。
[A case of Candida meningitis in a patient with CARD9 deficiency: an autopsy report].
Here we present the case of a 23-year-old female with a history of onychomycosis and oral thrush since childhood. She presented with a gradual onset of headache, and cerebrospinal fluid (CSF) analysis on admission revealed an elevated mononuclear cell count. Hydrocephalus was observed on brain MRI. Candida albicans (C. albicans) was detected in the CSF, and antifungal treatment was initiated to diagnose of Candida meningitis. Due to an insufficient therapeutic response, intraventricular administration of liposomal amphotericin B initiated; however, the lesions persisted. Subsequently, the patient experienced repeated occlusions of the ventriculoperitoneal shunt tube, ultimately dying from a bacterial shunt infection. Autopsy findings revealed diffuse fungal proliferation on the surface of the brainstem and ventricular walls. Genetic testing confirmed a diagnosis of CARD9 deficiency. Although CARD9 deficiency is a rare disease, genetic testing should be considered when primary immunodeficiency is suspected.