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An adolescent with recurrent ankle swelling.
Andrea Trombetta1, Maria Rita Lucia Genovese2, Giulia Gortani3
1IRCSS Burlo Garofolo, Universita degli Studi di Trieste, Trieste, Italy.
Summary
A 14-year-old girl experienced persistent bilateral ankle swelling and pain. Despite extensive negative investigations, the cause of her symptoms remained elusive, highlighting a diagnostic challenge.
Area of Science:
- Pediatric Medicine
- Rheumatology
- Diagnostic Imaging
Background:
- A 14-year-old female presented with a 2-year history of intermittent bilateral ankle swelling and progressive pain.
- The patient reported no significant medical history, medication use, or involvement in sports.
Observation:
- Physical examination revealed bilateral non-pitting ankle edema, more pronounced on the left, with a thickened skinfold near the second toe.
- No signs of inflammation such as redness or warmth were noted.
- Previous diagnostic imaging, including X-rays, ultrasound (US), and MRI of the ankles, were unremarkable.
Findings:
- Comprehensive blood tests (including inflammatory markers, autoimmune antibodies, and organ function tests) and urinalysis were within normal limits.
- Ocular assessment and echocardiogram were also normal, ruling out systemic inflammatory or cardiac causes.
- Despite a thorough diagnostic workup, the etiology of the patient's bilateral ankle swelling and pain remained undetermined.
Implications:
- This case underscores the importance of considering less common or idiopathic causes of pediatric ankle swelling and pain when initial investigations are negative.
- Further investigation may be warranted to explore rare genetic or metabolic conditions.
- Highlights the challenges in diagnosing chronic, unexplained musculoskeletal symptoms in adolescents.
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