An 11-Year-Old Girl With Facial Swelling and Leg Pain

Jeffrey A. Toretsky, MD; Stefan Zöllner, MD


October 08, 2019

Radiographically, ES appears as a poorly defined osteolytic lesion that may be frequently associated with cortical erosion and a soft-tissue mass adjacent to the destructive site.[18,19] Although ES is most often presents osteolytic change with bone destruction, this aspect is not a pathognomonic feature. The differential diagnosis of indistinct osteolytic lesions with a similar image pattern comprises neuroblastoma, osteogenic sarcoma, Langerhans cell histiocytosis, and osteomyelitis.[1] In addition to conventional radiography, MRI and CT are highly recommended for accurate evaluation of expansion of the lesion before treatment is initiated.[19]

In this case, correlating the patient's symptoms to the pattern of differential diagnoses of facial swelling and systemic diseases is important. The rapid development of swelling within weeks, localized paresthesia indicating cranial nerve involvement, and progressive growth despite antibiotic treatment should guide the diagnosis toward cancer. Recurrent mild fever, normochromic and normocytic anemia, and fatigue are further nonspecific signs of an underlying malignant condition, possibly metastasized.[20,21]

Fever, malaise, and loss of appetite and weight may mimic septicemia or disseminated neuroblastoma. However, a normotensive patient older than 5 years without abdominal mass, autonomic symptoms, or periorbital ecchymosis due to orbital involvement renders neuroblastoma clinically improbable. Clearly, evaluation of urine catecholamines is crucial to rule out this diagnosis.[22,23] The absence of palpable lymph nodes makes lymphoma unlikely. Still, pain, swelling, and sensory disturbance are clinical signs of intraoral lymphomas.[24]

Hodgkin lymphoma presents more commonly in adolescents, whereas non-Hodgkin lymphoma (NHL) predominates in children younger than 10 years. Of all the different types of NHL, endemic Burkitt lymphoma presents more commonly with jaw or facial bone tumors. Sporadic, nonendemic Burkitt lymphoma represents the most common subtype of NHL but usually exhibits an abdominal manifestation, such as bleeding, bowel obstruction, and ascites.[25]

The leg pain of this particular patient had to be both included in and excluded from the differential diagnosis. It could have been trauma-induced independent of the facial process, because its nocturnal occurrence and pain relief by nonsteroidal anti-inflammatory drugs might indicate an osteoid osteoma transmitted by arthritis. It may also be caused by systemic lupus erythematosus with anemia and pleural effusion.[26,27,28] It could have also been related to the malignant facial focus, such as metastasis or primary tumor.

In the context of osteomyelitis, headache and leg pain could be symptoms of infectious emboli to sinus cavernosus and bone marrow.[29,30] Malignant craniofacial tumors can also cause sinus cavernosus thrombus.[31]

In addition, the initial presentation of leg and jaw pain is suggestive of multiple bony lesions due to Langerhans cell histiocytosis.[32,33] Craniofacial lesions are the most frequent lesions at presentation in patients with Langerhans cell histiocytosis; the mandible tends to be affected more common in adults than in children.[34] The elevated liver enzyme levels could indicate the liver involvement of sclerosing cholangitis, which is common in many patients with multisystem Langerhans cell histiocytosis.[35] Abdominal ultrasonography should be performed.

In light of the patient's pulmonary crackles and fever, and her brother's infection, radiographic imaging of the chest should be provided to detect any infectious or malignant foci.


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