| Literature DB >> 31700940 |
Sophie Martin1, Elise Balligand1, Julie Peeters2, Marie-Cécile Nassogne3, Bénédicte Mondovits4, Michèle Loop4, Ariel de Selys4, Jean Vanclaire4, Christiane Vermylen5, Jean-Jacques De Bruyckere6, Olga Chatzis7, Anne Puel8, Olivier Gilliaux9, Dimitri Van Der Linden7,10.
Abstract
A 7-year-old child of Turkish origin presented with headache and vomiting in the context of prolonged fever of unknown source. At examination, oral candidiasis and chronic onychomycosis were noted. A Candida meningoencephalitis was diagnosed and intravenous Amphotericin B liposomal was given during 6 months relayed by oral Fluconazole after regression of CNS lesions was observed on MRI. A complete immune evaluation was performed, and genetic analysis detected homozygous CARD9 mutation. CARD9 deficiency have been associated with invasive candidiasis in otherwise healthy patients. Culture of the cerebrospinal fluid grew for multisensitive Candida albicans. Brain magnetic resonance (MRI) showed the presence of focal lesions in the left caudate nucleus and in the right cerebellar hemisphere. Medullar MRI showed diffuse meningeal nodular lesions. Treatment with intravenous amphotericin B liposomal was given during 6 months relayed by oral fluconazole after regression of CNS lesions was observed on MRI. A complete immune evaluation was performed and genetic analysis detected a homozygous CARD9 mutation. CARD9 deficiency have been associated with invasive candidiasis in otherwise healthy patients.Entities:
Keywords: CARD9 deficiency; chronic mucocutaneous candidiasis; eosinophilic meningitis; meningoencephalitis
Year: 2019 PMID: 31700940 PMCID: PMC6825800 DOI: 10.1093/ofid/ofz229
Source DB: PubMed Journal: Open Forum Infect Dis ISSN: 2328-8957 Impact factor: 3.835