Abstract

Objective To explore the early diagnosis of acute lymphoblastic leukemia (ALL) in children with osteoarthritis as the first symptom, and analyze the causes of misdiagnosis, in order to avoid misdiagnosis. Methods On 2 January 2017, one child with ALL suffering from osteoarthritis as the initial symptom, who was hospitalized in Department of Nephrology, Chengdu Women′s and Children′s Central Hospital, was selected as the object of this study. The clinical features, diagnosis and treatment of this child were analyzed by retrospective analysis retrospectively, and the related literatures were reviewed. Results On 4 January 2017, the results of bone marrow cell morphology showed that the proliferation of nucleated cell was active, especially lymphoblasts which were occupied 87% of nuclear cells. Myeloid, erythroid series and megakaryocytes were all inhibited. On 10 January 2017, the results of flow cytometry showed that there were abnormal cells in the region of the primitive cells , which was occupied 98% of nuclear cells. The results of immunophenotype showed that the expression of CD2, CD3, CD4, CD5, CD7, CD38, CD34, CD58, cCD3, and TdT were positive. On 1 February 2017, the results of chromosome karyotype of bone marrow was 46, XY (20), which suggested a normal male karyotype. Then, the results of leukemia fusion gene screening showed that the TEL/AML1 fusion gene was positive. Finally, on 1 February 2017, this child was diagnosed as a moderate risk type of acute T-lymphoblastic leukemia (T-ALL), and France, the United States and the United Kingdom cooperative group (FAB) type was ALL-L2. After one month chemotherapy with Chinese Children′s Leukemia Group-ALL 2008(CCLG-ALL2008) protocol, the osteoarthritis disappeared, erythrocyte sedimentation rate (ESR) decreased from 108 mL/h to 22 mL/h, and the serum uric acid concentration decreased from 3 873 μmol/L to 215.8 μmol/L. On 15 February 2017, the results of bone marrow cell morphology showed that the percentage of the original and immature cells was less than 5%, the erythrocyte series and megakaryocytes were normal, and the bone marrow showed remission. Conclusions When ALL manifested osteoarthritis as the first symptom, accompanied with elevated serum inflammation indicators, ALL in children may be easily misdiagnosed as juvenile idiopathic arthritis (JIA). Carefully and bone marrow aspiration examination could avoid misdiagnosis. Key words: Leukemia, T-cell; Arthritis, juvenile; Misdiagnosis

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