Abstract
HISTORY: A 4 y/o non-verbal male with Rubinstein-Taybi syndrome presented for poor motion of his right arm. The patient was noted to become fussy when his parents put his shirt on that morning and when they tried to move his right arm. There were no known injuries, trauma, fever, or recent illness. Birth history was unremarkable. He had a tethered cord release in his first year of life. At baseline he uses all extremities and can crawl but not walk. PHYSICAL EXAMINATION: T 97.9F BP 104/80 HR 115 Well appearing, nonverbal and wheelchair-dependent male. No ecchymosis or significant erythema to the right arm. Limited active and full passive ROM of right shoulder, elbow and wrist with fussiness noted on manipulation. No focal tenderness noted. 2/4 MSR in bilateral upper and lower extremities. DIFFERENTIAL DIAGNOSIS: 1. Radial Head Subluxation 2. Non-accidental Trauma - fracture or dislocation 3. Osteomyelitis 4. Septic Arthritis 5. Tumor/Malignancy TESTS AND RESULTS: R Shoulder and Elbow XRs: No fracture or soft tissue abnormality seen CRP 41.7 mg/L, ESR 44 mm/hr, Blood culture No growth MRI of Right Humerus: Effusion with surrounding enhancement in the right shoulder; subtle changes in the metaphysis of the right humerus with periosteal edema and enhancement FINAL WORKING DIAGNOSIS: Pre-B cell Acute Lymphoblastic Leukemia TREATMENT AND OUTCOMES 1. The patient underwent manual reduction of possible radial head subluxation, which was felt to be successful with improved ROM of the elbow. However, symptoms returned within a day. 2. Labs and imaging were concerning for infection and he was admitted for surgical wash-out of right shoulder and sent home on prolonged IV antibiotics. 3. He developed contralateral shoulder symptoms with prolonged fever and left shoulder MRI showed similar findings. 4. After multiple wash outs and rounds of IV antibiotics, Flow Cytometry was noted to be positive for Pre-B cell acute lymphoblastic leukemia, so patient was started on appropriate chemotherapy regimen and is currently in the maintenance phase. 5. This case demonstrates the difficulty in pediatrics of identifying the cause of medical issues in patients who are non-verbal, as well as the vast differential diagnoses possible in children with musculoskeletal complaints. It also highlights the need for close follow up to resolution of symptoms.
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