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

Int J Infect Dis. 2021 Jun:107:59-61. doi: 10.1016/j.ijid.2021.04.052. Epub 2021 Apr 16.

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.

Keywords: CARD9 deficiency; Cerebral Phaeohyphomycosis; Voriconazole therapeutic drug monitoring.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Antifungal Agents
  • CARD Signaling Adaptor Proteins
  • CARD9 protein, human
  • liposomal amphotericin B
  • Amphotericin B
  • Voriconazole

Supplementary concepts

  • Candidiasis familial chronic mucocutaneous, autosomal recessive