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.
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March 2023
Case Reports|
February 24 2023
Pseudomonas Meningitis and Intracranial Hemorrhage in IRAK-4 Deficiency
Simon Hardman, MBChB, MRCPCH;
aPaediatric Registrar and Clinical Research Fellow
Address correspondence to Dr Simon Hardman, Sheffield Children’s Hospital, Clarkson Street, Sheffield, England. E-mail: simon.hardman1@nhs.net
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Andrew Martin, MBMChB, BSc, FRCR;
Andrew Martin, MBMChB, BSc, FRCR
cConsultant Neuroradiologist, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
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Daniel Connolly, MBChB, BSc, FRCR;
Daniel Connolly, MBChB, BSc, FRCR
cConsultant Neuroradiologist, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
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Catherine Waruiru, MBChB, MRCPCH
Catherine Waruiru, MBChB, MRCPCH
bPaediatric Immunology and Infectious Diseases Consultant
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Address correspondence to Dr Simon Hardman, Sheffield Children’s Hospital, Clarkson Street, Sheffield, England. E-mail: simon.hardman1@nhs.net
Pediatrics (2023) 151 (3): e2021053663.
Article history
Accepted:
November 14 2022
Citation
Simon Hardman, Andrew Martin, Daniel Connolly, Catherine Waruiru; Pseudomonas Meningitis and Intracranial Hemorrhage in IRAK-4 Deficiency. Pediatrics March 2023; 151 (3): e2021053663. 10.1542/peds.2021-053663
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