Pseudomonal Vasculopathy of the Central Nervous System in a 2-Year-Old Female With an IRAK4-Related Immunodeficiency

Background:Pseudomonas aeruginosa (PA), a gram-negative bacillus, has varied clinical manifestations with septicemia as the most lethal. PA infection is usually regarded as opportunistic and often nosocomial. Case Presentation: We present a case of a “healthy” pediatric patient presenting with upper respiratory symptoms who rapidly deteriorated. Blood cultures grew Pseudomonas aeruginosa shortly after death. The postmortem examination revealed Pseudomonal vasculopathy of the central nervous system and genetic testing detected an autosomal recessive pathogenic variant in IRAK-4. Discussion: Community-acquired Pseudomonal sepsis in previously healthy children is rare. Studies have found that up to 20% of children presenting with sepsis have an underlying immune defect. Deficiency of IRAK-4 predisposes patients to recurrent, life-threatening, microbial infections, notably Streptococcus pneumoniae, Staphylococcus aureus, and PA. Conclusion: A primary immunodeficiency should be suspected in a “healthy” child presenting with sepsis by an unexpected bacterium as the clinical consequences may be severe and the findings may have reproductive implications for the parents.