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Published on: August 12, 2020
Recurrent fevers and failure to thrive in an infant
David R Scott1, Sarah Chan, Johanna Chang
1Scripps Clinic, Department of Medicine, San Diego, CA 92130, USA. deardrscott@gmail.com
Insights
This case study details a young boy with recurrent fevers, arthritis, and diarrhea, highlighting a rare immunodeficiency. Early diagnosis and treatment are crucial for managing complex pediatric inflammatory conditions.
Area of Science:
- Pediatric immunology
- Clinical genetics
- Infectious diseases
Background:
- Recurrent fevers, arthritis, and failure to thrive in infants can indicate underlying immune system dysfunction.
- Consanguinity and geographic origin (India) may suggest specific genetic predispositions.
Observation:
- A 2-year-old boy presented with oral ulcers, lymphadenopathy, chronic diarrhea, developmental delay, and polyarticular arthritis.
- Herpes simplex virus 1 viremia and osteopenia with joint erosions were identified.
Findings:
- The patient exhibited symptoms suggestive of a primary immunodeficiency disorder.
- Comprehensive immunologic and genetic evaluations were performed to identify the specific condition.
Implications:
- This case underscores the importance of a thorough diagnostic approach for infants with complex, recurrent symptoms.
- Understanding the immunologic and genetic basis is key for effective therapeutic strategies in pediatric inflammatory diseases.
Abstract:
We describe a 2-year old boy with consanguineous parents who recently emigrated from India and presented with oral ulcers and lymphadenopathy. He also had a history of recurrent fevers, polyarticular arthritis, chronic diarrhea, failure to thrive, and developmental delay. Infectious workup revealed herpes simplex virus 1 viremia and radiological evaluation revealed osteopenia and erosions involving multiple joints. We describe the immunologic and genetic evaluation of this patient and discuss the diagnostic and therapeutic approach to an infant with recurrent fevers.
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