A Master of Disguise: Disseminated Fungal Disease Revealing Immunodeficiency

Disseminated fungal infection (DFI) is the presence of a fungal pathogen in the blood and/or any other deep-seated site due to vascular spread. It represents a rare but life-threatening infectious complication in immunocompromised patients. In this case report, we present a 19-year-old male with weakness of the limbs, headache, and slurred speech. He was a known case of endobronchial fungal infection with worsening neurological symptoms. Motor examination revealed reduced tone and strength, while respiratory examination revealed bilaterally decreased air entry. Fundoscopic examination revealed papilledema. Immunological evaluation demonstrated elevated IgE and IgG levels and a reduced CD16/56 natural killer cell count, indicating defective innate immunity. Radiological examination, including computed tomography (CT), positron emission tomography-computed tomography (PET-CT), and magnetic resonance imaging (MRI), demonstrated nodules with opacities and mediastinal and cervical lymphadenopathy in the chest, as well as multiple supratentorial and infratentorial lesions, extensive edema, and nodular leptomeningeal thickening on neuroimaging. The patient is hypothesized to have dysfunctional ryanodine receptors (RyR) rather than typical CGD. The patient was managed with antifungal therapy along with antiepileptic and antiedema drugs.