title: [Megakaryoblastic acute leukemia: bone and joint manifestations in a 7-month-old child].
abstract: Acute megakaryoblastic leukemia accounts for approximately 3-10% of acute myeloid leukemia in children. Its diagnosis may be difficult because of associated myelofibrosis. We report the case of a 7-month-old child who presented hepatomegaly with bicytopenia. She also developed bone and joint pain with recurrent aseptic arthritis. We suggested the diagnosis of megakaryoblastic leukemia early but multiple bone marrow investigations had been processed without positive results because of sampling problems and lack of abnormal cells in the morphological, phenotypic, and cytogenetic examinations. We had a variety of indirect evidence for our assumption: the x-ray showing periosteal new bone, lytic lesions and metaphyseal bands, bone marrow aspirate smears with micromegakaryocytes, and bone marrow biopsy suggesting myelofibrosis. This was very suggestive of leukemia but we could not prove it and we finally found megakaryoblasts on bone marrow aspirate smears after more than 2 months of investigation and initiated a course of corticosteroids.
authors.affiliation: Centre régional de cancérologie et thérapie cellulaire pédiatrique, hôpital Estaing, CHU de Clermont-Ferrand, BP 69, 1, place Lucie-Aubrac, 63001 Clermont-Ferrand, France.
authors.forename: F
authors.initials: F
authors.lastname: Chambon
authors.forename: C
authors.initials: C
authors.lastname: Paillard
authors.forename: E
authors.initials: E
authors.lastname: Doré
authors.forename: E
authors.initials: E
authors.lastname: Merlin
authors.forename: F
authors.initials: F
authors.lastname: Isfan
authors.forename: J-L
authors.initials: JL
authors.lastname: Stéphan
authors.forename: G
authors.initials: G
authors.lastname: Mareynat
authors.forename: F
authors.initials: F
authors.lastname: Deméocq
authors.forename: J
authors.initials: J
authors.lastname: Kanold
mesh_terms: D000740:Anemia / Q000209:etiology; D001170:Arthritis, Infectious / Q000175:diagnosis* / Q000473:pathology; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D001856:Bone Marrow Examination; D001842:Bone and Bones / Q000473:pathology*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D007947:Leukemia, Megakaryoblastic, Acute / Q000175:diagnosis* / Q000473:pathology; D008099:Liver / Q000473:pathology; D055016:Megakaryocyte Progenitor Cells / Q000473:pathology; D010014:Osteolysis / Q000473:pathology*; D010198:Pancytopenia / Q000209:etiology; D010521:Periosteum / Q000473:pathology*; D055728:Primary Myelofibrosis / Q000175:diagnosis* / Q000473:pathology