Humeral Diaphyseal Osteolytic Lesion as the Initial Presentation of Acute Myeloid Leukemia in a Child: A Case Report and Review of the Literature

It is well known that acute myeloid leukemia (AML) is characterized by lethargy, fever, pallor, and purpura. In children, however, skeletal symptoms may be present at onset in rare cases, and such cases tend to be misdiagnosed as osteomyelitis or septic arthritis. To distinguish acute leukemia from osteomyelitis or bone tumor, the utility of magnetic resonance imaging (MRI) has been discussed. We present a pediatric case of AML in which the initial manifestation was pain in a single bone, and the diagnosis was aided by bone marrow examination and MRI. A one-year-old male with AML presented with left humeral bone pain and intermittent fever. T1-weighted magnetic resonance imaging (T1WI) revealed diffuse low signal intensity in the bone marrow adjacent to the localized musculoskeletal symptoms. Despite a lack of blasts in the peripheral blood, the histopathological features of the bone focus suggested the need for an iliac crest bone marrow biopsy to obtain a definitive diagnosis. After the diagnosis of AML, the patient received induction and consolidation chemotherapy. He is currently alive in remission after a post-diagnosis follow-up of 36 months. To date, only seven pediatric cases of AML with skeletal symptoms at initial presentation have been reported, including the present one. In three cases, the skeletal lesion was observed at a single site, and the initial misdiagnosis was discitis, septic arthritis, or acute osteomyelitis. We suggest that AML should be considered as a differential diagnosis in children presenting with treatment-resistant single skeletal lesions. Not only MRI but also bone biopsy can yield diagnostically important information.