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Klinefelter syndrome
5%
1/21
Turner syndrome
0%
0/21
Down syndrome
90%
19/21
Edwards syndrome
Patau syndrome
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This patient is suffering from acute lymphoblastic/lymphocytic leukemia (ALL). There is an increased incidence of ALL in patients with Down syndrome. Presenting symptoms of ALL include bone marrow failure (manifesting as thrombocytopenia, neutropenia, but WBC count may also be increased or normal, and anemia), fatigue, pallor, petechiae, fever, bruising, and bleeding. Significant physical exam findings include lymphadenopathy and hepatosplenomegaly secondary to leukemic infiltrate. Peripheral blood smear shows lymphoblasts with cytoplasmic aggregates of PAS positive material. By definition, ALL must demonstrate at least 20% blast cells on bone marrow aspiration. Davis et al. review the leukemias. The four most common leukemias include acute lymphoblastic leukemia (ALL), acute myelogenous leukemia (AML), chronic lymphocytic leukemia (CLL), and chronic myelogenous leukemia (CML). ALL is the only form that is more common in children. Treatment may involve chemotherapy, radiation, monoclonal antibodies, and stem cell transplantation. Survival is highest in younger patients (ALL) and in patients with CML or CLL. Kennedy et al. discuss the correlation between certain birth characteristics and childhood leukemia risk. Birth order, birth weight over 4 kg, concomitant birth defects, Down syndrome, and increasing gestational age all showed correlations with increasing risk of developing ALL. In addition, there is an increased incidence of ALL associated with the following conditions: Down Syndrome, Fanconi anemia, Bloom syndrome, Ataxia telangiectasia, X-linked agammaglobulinemia, Severe combined immunodeficiency, and autoimmune thyroid disease. Figure A is a peripheral blood smear of a patient with ALL; note the presence of lymphoblasts. Illustration A shows bone marrrow aspirate and smears in a patient with ALL. Incorrect Answers: Answer 1: Klinefelter syndrome, XXY, is not associated with or a risk factor for development of ALL. Answer 2: Turner syndrome, XO, is not associated with or a risk factor for development of ALL. Answer 4: Edwards syndrome (trisomy 18) does not have an association with ALL. Answer 5: Patau syndrome (trisomy 13) does not have an association with ALL.
4.3
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