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

• Published in: International journal of infectious diseases Vol. 107; pp. 59 - 61
• Main Authors: Lai, Sophie H.Y., Duque, Jaime S. Rosa, Chung, Brian Hon-Yin, Chung, Tom Wai-Hin, Leung, Daniel, Ho, Ronnie Siu-Lun, Lee, Raymand, Poon, Rosana W.S., Chua, Gilbert T., Cheong, Kai-Ning, Chui, Martin Man Chun, Lee, Mianne, Tam, Sidney, Him, Andrew Ho Cheuk, Cheng, King-Fai, Ho, Wilson Wai-Shing, Yuen, Kwok-Yung, Lee, Pamela, Lau, Yu-Lung
• Format: Journal Article
• Language: English
• Published: Canada Elsevier Ltd 01.06.2021; Elsevier
• Subjects: CARD9 deficiency; Cerebral Phaeohyphomycosis; Voriconazole therapeutic drug monitoring; CADD; DANN; Voriconazole therapeutic drug monitoring; MRI; CARD9; CSF; CNS; ITS; Cerebral Phaeohyphomycosis; CARD9 deficiency; IV; MRS
• ISSN: 1201-9712; 1878-3511
• DOI: 10.1016/j.ijid.2021.04.052

•Isolated cerebral phaeohyphomycosis may require a focus on CARD9 deficiency.•Radiological imaging alone cannot differentiate cerebral fungal lesions from tumors.•Paired CSF and serum voriconazole levels are useful in treating cerebral fungal infection. 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.