Katakami Takashi, Ueda Takehiro, Nagata Manabu, Inoue Kimiko, Kageyama Yasuhumi
Department of Neurology, Hyogo Prefectural Amagasaki General Medical Center.
Department of Neurosurgery, Hyogo Prefectural Amagasaki General Medical Center.
Rinsho Shinkeigaku. 2024 Sep 26;64(9):648-653. doi: 10.5692/clinicalneurol.cn-001980. Epub 2024 Aug 24.
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.