1 - Pediatric Rheumatology Unit, Hospital Dona Estefânia – CHULC, Lisbon, Portugal
2 - Neonatal Intensive Care Unit, Hospital Dona Estefânia – CHULC, Lisbon, Portugal
3 - Center for Predictive and Preventive Genetics, IBMC, Porto, Portugal
4 - Radiology Department, Hospital Dona Estefânia – CHULC, Lisbon, Portugal
5 - Primary Immunodeficiencies Unit, Hospital Dona Estefânia – CHULC, Lisbon, Portugal
- 12th Meeting of the International Society of Systemic Autoinflammatory Diseases
- Poster com apresentação
Introduction: Monogenic Auto-Inflammatory Diseases (AID) can manifest in the neonatal period but, given the paucisymptomatic nature of newborns and that in this age bracket inflammatory markers are raised most frequently in relation with underlying infections, an increased index of suspicion is required to make the diagnosis.
Objectives: To describe the clinical presentation, evaluation and management of a Deficiency of Interleukin-1 Receptor Antagonist (DIRA) patient with an early diagnosis and treatment onset and a possible novel disease-causing variant.
Methods: Clinical case report based on the review of medical records.
Results: The authors present the case of a female newborn, first child of non-consanguineous parents, born prematurely at 34 weeks and 5 days gestation. She was transferred to our neonatal ICU with 11 days due to early-onset neonatal sepsis and suspicion of arthritis of her right elbow, with CRP rising from 6mg/L on the first day of life to 224mg/L. On admission, asymmetric hypomobility of her upper limbs was noted as well as pustules on sites of previous venipunctures. A first ultrasound showed a small right elbow effusion which receded within 24 hours. On observation by our Pediatric Rheumatology team on day 30, the clinical history was remarkable for: permanently elevated albeit fluctuating inflammatory parameters (namely CRP: range 45.8mg/L – 247mg/L) irrespective of antibiotics; all cultures performed were sterile; periods of mild breathing difficulty and hypoxemia, requiring O2 supplementation and non-invasive ventilation; irritability, feeding difficulties and poor weight gain; and two major thrombotic events in relation to central venous catheters prompting anticoagulation treatment. Throughout her entire hospital stay, there was no record of fever. Retrospective review of her thoracic x-rays revealed ballooning of the anterior extremities of the ribs, confirmed by a low-dose partial thoracic CT. Presumptive diagnosis of an AID was made, specifically of DIRA, given the typical findings suggestive of this entity. Anakinra was started at 2mg/kg/day on day 38 of life. Since then, sustained clinical improvement has been noted and well as of inflammatory markers, which at 4 months of anakinra are normal. She is showing adequate weight gain, psychomotor development and demonstrates global well-being on observation.
Palavras Chave: Deficiency of Interleukin-1 Receptor Antagonist, IL1RN gene, anakinra