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.
