Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment

• DOI: 10.1016/j.ijid.2021.04.052
• Publication Date: 2021-04-19T05:15:17Z
• Authors: Sophie H.Y. Lai; Jaime S. Rosa Duque; Brian Hon-Yin Chung; Tom Wai-Hin Chung; Daniel Leung; Ronnie Siu-Lun Ho; Raymand Lee; Rosana W.S. Poon; Gilbert T. Chua; Kai-Ning Cheong; Martin Man Chun Chui; Mianne Lee; Sidney Tam; Andrew Ho Cheuk Him; King-Fai Cheng; Wilson Wai-Shing Ho; Kwok-Yung Yuen; Pamela Lee; Yu-Lung Lau
• Keywords: 0303 health sciences; 03 medical and health sciences; Cerebral Phaeohyphomycosis; Voriconazole therapeutic drug monitoring; Infectious and parasitic diseases; RC109-216; CARD9 deficiency; 3. Good health

We report this rare case of cerebral phaeohyphomycosis in a previously healthy Chinese boy, who was found to have caspase recruitment domain family member 9 (CARD9) deficiency. Initial radiological features suggested a neoplastic cerebral lesion, while histopathological examination supplemented by internal transcribed sequencing (ITS) of cerebral tissue confirmed the diagnosis of phaeohyphomycosis. He was treated with intravenous (IV) liposomal amphotericin B and voriconazole, guided by plasma and cerebrospinal fluid (CSF) level monitoring at drug initiation. At the 1 year follow-up, the patient demonstrated near complete neurological and radiological recovery.