CTICasesKabuki Syndrome with Common Variable Immune Deficiency (CVID) and Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD)
Imaging findings
CT shows numerous ill-defined lung nodules, predominantly in the bases, which have been slowly progressive over four years, with some regressing and others appearing. The patient also has splenomegaly, hepatomegaly, and intestinal malrotation. There is modest mediastinal lymphadenopathy.
Key takeaways
This case illustrates pulmonary manifestations in a patient with Kabuki syndrome, a congenital disorder often associated with common variable immune deficiency (CVID). The lung findings, characterized by progressive nodular disease and mediastinal lymphadenopathy, are consistent with granulomatous-lymphocytic interstitial lung disease (GLILD), a recognized complication of CVID.
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