16-Year-Old Female with Ankle & Calf Pain
Another case, presented by Rachel Guess, MD, assistant professor of pediatrics, rheumatology and immunology at Washington University in St. Louis, involved a 16-year-old female who was active in sports and healthy who presented on a few visits with ankle pain, then calf pain. She then has severe left hip pain, for which she went to the emergency room.
Her inflammatory markers had steadily increased and her hemoglobin had decreased. When she got short of breath during a blood transfusion, she was admitted to the hospital, where she got a magnetic resonance imaging (MRI) scan.
The left-hip MRI showed two large, rim-enhancing, diffusion-restricting fluid collections in the muscles, which were favored to represent intramuscular abscesses. Extensive muscle and soft tissue inflammation was also seen.
The orthopedics team was able to drain fluid but the patient had hemoptysis, and she needed to be intubated and received a norepinephrine drip.
A chest computed tomography (CT) scan showed diffuse alveolar opacification, a rapid change from the chest X-ray two days before, with small right pleural effusion and small volume ascites.
She was negative on a variety of tests, including Blastomyces, leptospira, a heavy metals panel, anti-nuclear antibody (ANA) and antiphospholipid antibodies. But she was positive for anti-neutrophil cytoplasmic antibody (ANCA), specifically anti-proteinase 3 antibody. She was diagnosed with ANCA-associated vasculitis and granulomatosis with polyangiitis (GPA).
Necrotizing myositis is sometimes seen as a manifestation of GPA, but not a particularly high percentage of the time. A systematic review of 395 patients with muscle vasculitis found that GPA was seen in 19 of the patients and microscopic polyangiitis in 57 of the patients, for a total of about 19%.1
A muscle biopsy has been shown to be helpful, said Dr. Guess, whose case won the competition.
“This actually might be a path towards making the diagnosis, by a relatively low-risk biopsy,” she said. One study showed biopsy done without image guidance yielded a positivity rate of 58%.2
12-Year-Old Female with Multiple Joint Contractures
In another presentation, Johnson Nameirakpam, MD, of the Jawaharlal Nehru Institute of Medical Sciences in Manipur, India, discussed a 12-year-old female with multiple joint contractures and deformities, who had normal inflammatory markers. She had a history of fractures after seemingly trivial trauma.
On X-ray, she was found to have interosseous membrane and metaphyseal expansion of the arms, and hypertrophic callus, and, upon further testing, osteoporosis. Her father had similar contracture and was diagnosed with osteosarcoma.
