Pseudomonas Meningitis and Intracranial Hemorrhage in IRAK-4 Deficiency.
- Resource Type
- Article
- Authors
- Hardman, Simon, ; Martin, Andrew; Connolly, Daniel; Waruiru, Catherine
- Source
- Pediatrics; Mar2023, Vol. 151 Issue 3, p1-5, 5p
- Subject
- Case studies
Immunological deficiency syndrome complications
Primary immunodeficiency diseases
Proteins
Genetic mutation
Temperature
Vaccines
Intracranial hemorrhage
Inflammation
Magnetic resonance imaging
Bacterial meningitis
Antibiotic prophylaxis
Vomiting
Pseudomonas diseases
Genetic markers
Pseudomonas
Bacterial diseases
Death
Computed tomography
Disease risk factors
Disease complications
- Language
- ISSN
- 00314005
Interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immune deficiency of the innate immune system. Children with this condition are susceptible to life-threatening bacterial infections. IRAK-4 deficiency results in reduced or absent systemic features of inflammation despite overwhelming infection. We present 2 siblings who died in infancy after rapidly progressive Pseudomonas sepsis and meningitis. There was diagnostic uncertainty in the firstborn infant because of significant intracranial hemorrhages. This was confounded by a failure to mount an inflammatory response. As such, it was difficult to distinguish between possible nonaccidental injuries and an infectious cause. Perimortem genetic analysis of the second-born infant identified a known mutation in IRAK-4. We intend to raise awareness of IRAK4 deficiency, highlight the importance of considering primary immune deficiencies in the differential of unusually severe infection, document progressive intracranial radiologic changes seen in overwhelming Pseudomonas meningitis and discuss the differences in the radiologic features seen in abusive head trauma within this age group. [ABSTRACT FROM AUTHOR]