Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment. (June 2021)

• Record Type: Journal Article
• 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
• Is Part Of: International journal of infectious diseases. Volume 107(2021)
• Page Start: 59
• Page End: 61
• Publication Date: 2021-06
• Subjects: CADD combined annotation-dependent depletion -- CARD9 caspase recruitment domain family member 9 -- CNS central nervous system -- CSF cerebral spinal fluid -- DANN deleterious annotation of genetic variants using neural networks -- ITS internal transcribed spacing -- IV intravenous -- MRI magnetic resonance imaging -- MRS magnetic resonance spectroscopy; Cerebral Phaeohyphomycosis -- CARD9 deficiency -- Voriconazole therapeutic drug monitoring; Communicable diseases -- Periodicals; Communicable Diseases -- Periodicals; Communicable diseases; Periodicals; Electronic journals; 616.9
• DOI: 10.1016/j.ijid.2021.04.052
• Languages: English
• ISSNs: 1201-9712

Abstract

Highlights: 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. Abstract: 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.