CTICasesDisseminated MAC with Interferon-Gamma Receptor Deficiency
Imaging findings
CT chest and abdomen shows extensive, necrotic mediastinal/hilar lymphadenopathy, multiple splenic infarcts, lytic bone lesions, and MRI findings of cerebral and spinal cord lesions. Cultures grew Mycobacterium avium complex.
Key takeaways
Disseminated non-tuberculous mycobacterial (NTM) infection in young, apparently immunocompetent patients should raise suspicion for an underlying genetic immunodeficiency, such as interferon-gamma receptor or IL-12 pathway mutations, presenting with widespread bone, splenic, and CNS involvement.
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