A 6-Year-Old Girl with Bone and Joint Pain

Posted by Sara Fazio • April 26th, 2013

In the latest Case Record of the Massachusetts General Hospital, a 6-year-old girl was admitted to this hospital because of bone and joint pain for 1 year and recent onset of fever and abdominal distention. Imaging revealed a mass in the abdominal and pelvic region and lesions in the liver, kidneys, and multiple bones.

A diagnosis of Langerhans’-cell histiocytosis should be considered in a child with bone pain and lytic skeletal lesions. Patients with Langerhans’-cell histiocytosis may present with disease of a single site, most commonly bone, or with multisystem disease. Patients with multisystem disease can present with rash, bone pain, hepatosplenomegaly, and signs of bone marrow infiltration.

Clinical Pearls

What infectious diseases should be considered in a young child presenting with myalgias and arthralgias?

Lyme disease should be considered when a young child from an area where Lyme disease is endemic presents with myalgias and arthralgias. It would be important to inquire about the presence of an erythema migrans rash. Objective arthritis is often evident on physical exam, and tests for antibodies to Borrelia burgdorferi would be confirmatory. Patients who have been infected with Bartonella henselae through a cat scratch or bite or a flea bite may present with fever and regional lymphadenopathy; therefore, a diagnosis of cat scratch disease should be considered. Similarly, tularemia should be considered in patients who have been exposed to rabbits or rodents and have an acute presentation with fever and lymphadenopathy. Parvovirus infections can be followed by arthralgias and arthritis. Myalgias, arthralgias, and bone pain are clinical findings associated with subacute bacterial endocarditis. Tuberculosis should be considered in a child with lymphadenopathy and bony disease.

• What is the classic presentation of systemic onset juvenile idiopathic arthritis?

Patients with systemic onset juvenile idiopathic arthritis typically have daily spiking fevers, objective arthritis, rash (commonly salmon colored), and a markedly elevated white-cell count. A significantly elevated platelet count and anemia are also commonly present. Arthritis may not be present early in the course of disease, but is necessary to make the diagnosis.

Morning Report Questions

Q: What is the epidemiology and typical presentation of Burkitt’s lymphoma?  

A: Burkitt’s lymphoma is the most common lymphoma in children, accounting for approximately 35 to 40% of the cases. The peak incidence of Burkitt’s lymphoma is in children 5 to 10 years of age. The abdomen is the most common site of disease. Patients may present with massive abdominal disease involving the mesentery, retroperitoneum, kidneys, and ovaries. Bone involvement, however, is uncommon. Because of the rapid proliferation of Burkitt’s lymphoma, patients classically present with high uric acid and lactate dehydrogenase levels.

Q: What are the characteristics of B-cell acute lymphoblastic leukemia-lymphoblastic lymphoma (B-cell ALL/LBL)?    

A: In the past, ALL and lymphoblastic lymphoma were considered distinct diseases, but they are now regarded as different clinical stages of the same disease — B-cell acute lymphoblastic leukemia-lymphoblastic lymphoma (B-ALL/LBL). Because genetic findings can have specific clinicopathological associations and prognostic implications, final classification of B-ALL/LBL requires cytogenetic analysis. Common translocations seen in B-ALL/LBL include t(9;22)(q34;q11) (BCR-ABL), t(12;21)(p13;q22) (TEL-AML1), and t(11q23) (MLL). Cases in which there is no specific cytogenetic abnormality are considered to have an intermediate prognosis. A slow rate of early response to treatment and the presence of minimal residual disease at the end of induction therapy have been shown to be strong predictors for relapse.

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