Ecchymosis and Bilateral Leg Pain in an 11-Year-Old Girl With Developmental Delay

Physical Examination and Workup

Upon examination in the ED, the patient is hemodynamically stable. She is afebrile. The only notable vital sign is tachycardia, at a rate of 135 beats/min. She is alert and oriented but appears thin and pale.

The oropharyngeal examination is significant for gingival hyperplasia (Figure 1) and scant bleeding noted on palpation of the right anteroinferior gingiva. Musculoskeletal examination of her lower extremities reveals grade 1+ pitting edema of the left leg, extending from just below the knee to the foot. Significant ecchymosis from the left foot up to the knee is noted (Figures 2 and 3). Petechiae are also present. The patient has decreased range of motion and pain with flexion, greater on the left than on the right. The right leg demonstrates similar findings, though to a lesser degree. Scattered ecchymoses, petechiae, and mild right lower extremity edema are noted. There is significant muscle atrophy of both lower extremities.

Figure 1.

Figure 2.

Figure 3.

The laboratory workup covers hematologic, rheumatologic, and infectious etiologies. Her blood cell count is significant for these values:

• Hemoglobin level: 5.9 g/dL (a sharp decline from a previous outpatient measurement of 12.3 g/dL 2 weeks ago [reference range, 10-15.5 g/dL])

• Hematocrit: 18.9% (reference range, 36%-46%)

• Red blood cell (RBC) count: 2.24 × 10⁶/µL (reference range, 4-5.5 × 10⁶/µL)

Iron studies are also significant for a low iron level of 22 µg/dL (reference range, 50-120 µg/dL) and a transferrin saturation of 7% (reference range, 15%-50%). The ferritin level is 44 µg/L (reference range, 11-307 µg/L), and the transferrin level is 205 mg/dL (reference range, 204-360 mg/dL).

The other cell counts are normal, including a white blood cell count of 7.96 × 10⁹ cells/L (reference range, 4-11 × 10⁹ cells/L) and a platelet count of 343 × 10⁹ cells/L (reference range, 150-400 × 10⁹ cells/L). The reticulocyte count is elevated at 7.8% (reference range, 0.5%-2%). The chemistry panel and hepatic function test values are normal. Coagulation studies are unremarkable and show these results:

• Prothrombin time: 15.2 seconds (reference range, 11.0-14.0 seconds)

• Partial thromboplastin time: 27.0 seconds (reference range, 25-35 seconds)

• International normalized ratio: 1.18 (reference range, 0.8-1.2)

The creatine kinase level is 117 U/L (reference range, 30-145 U/L). Hemolysis studies reveal a haptoglobin level of 280 mg/dL (reference range, 50-220 mg/dL), a lactate dehydrogenase (LDH) level of 179 U/L (reference range, 120-260 U/L), and a negative direct Coombs test. Inflammatory markers are mildly elevated, with a C-reactive protein level of 18.8 mg/L (reference range, < 10.0 mg/L) and an erythrocyte sedimentation rate of 33 mm/h (reference range, ≤ 10 mm/h). A vitamin C level is pending. A blood smear is unremarkable. An immunologic panel is positive for antinuclear antibodies with a speckled pattern but shows no other specific findings. Testing for Lyme disease is negative. A blood culture by polymerase chain reaction is negative.

A bilateral venous duplex examination of the legs shows normal Doppler signals throughout the lower extremities. No evidence of thrombophlebitis is detected in the deep and superficial veins of the legs bilaterally; however, small-calf thrombi cannot be excluded.

Bilateral radiographs of the tibia and fibula show no acute fracture or dislocation (Figures 4 and 5). Visualized joint spaces are preserved.

Figure 4.

Figure 5.

In the ED, the patient is transfused with one unit of packed RBCs, and her pain is treated with acetaminophen. She is admitted to the pediatric inpatient unit.

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Cite this: Ecchymosis and Bilateral Leg Pain in an 11-Year-Old Girl With Developmental Delay - Medscape - May 24, 2023.