关键词: CARD9 deficiency Cerebral Phaeohyphomycosis Voriconazole therapeutic drug monitoring

Mesh : Administration, Intravenous Amphotericin B / administration & dosage Antifungal Agents / administration & dosage CARD Signaling Adaptor Proteins / genetics Candidiasis, Chronic Mucocutaneous / diagnosis drug therapy Cerebral Phaeohyphomycosis / diagnosis drug therapy microbiology surgery Child China Humans Male Mutation, Missense Radiography / methods Treatment Outcome Voriconazole / administration & dosage

来  源:   DOI:10.1016/j.ijid.2021.04.052   PDF(Sci-hub)

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.
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