It is a congenital hypoplasia megakariotsitnogo apparatus.The disease is characterized by clearly expressed thrombocytopenia and often accompanied by other congenital malformations (double-sided radius aplasia, cleft lip, congenital heart disease, congenital kidney, etc.). Etiology
not fully understood.It is believed that it is a hereditary disease or embryopathy.
Clinically, the disease is manifested petechiae, gematemezom, melena, anemia, sometimes leukemoid tests.In peripheral blood are strongly pronounced thrombocytopenia, and bone marrow to a significant reduction in the total absence of the number of megakaryocytes.
gives the following observation: RD M. child of her second pregnancy.In the first months of pregnancy, the mother worked with lead.A child full-term, with a birth weight of 3250 g, an increase of 50 cm. objectively.Heavy anomaly of upper limb (severe shortening of the shoulder and forearm in particular) with arachnodactyly and clinodactyly, slight shortening of the low
er limb.When a child is pale with hemorrhages on the face, legs and torso.Bruising and petechiae in the child appeared on the second day after birth. Cardiac activity accelerated, rhythmic, 124 beats / min.The second tone on the pulmonary artery bifurcated.Holosistolichesky noise III-IV degree at the left sternal border with punctum maximum in the III-IV intercostal space on the left.Noise propagiruet to the top, a very well audible at the back.The liver protruded from the costal arch 1 cm and 2 cm spleen. Meningeal phenomena are absent. Paraclinical research.Clearly defined anizopoykilotsitoz, hypochromia, anizohromiya, polihromaziya.Bleeding time between 10 and 17 minutes.clotting time - 5 minutes and 10 seconds.Tibial puncture - rich cells of the bone marrow, preserved erythropoiesis (presence proerythroblast, basophilic, polychromatic erythroblasts and oxyphilous).The marked increase in the content of a number of granulocyte cells.Moderate reticulocyte response - reticular cells - 3-4%, ezoinofilnye - 2-3%.Megakaryocytes do not occur. Radiography of the heart and lungs - pulmonary hypervolemia;Heart shadow with smooth waist, enlarged konveksitet right heart and left ventricular contour, the tip of the heart is rounded and raised. Radiography of bones: the forearm is significantly lagging behind in development, are visible only on one of the bones;shoulder bones are well decorated with a reduced length size. ECG - two-way encumber the heart ventricles. Treatment consisted of blood transfusions, and later cardiac and diuretic therapy was appointed under which developed cardiovascular decompensation.On the 14th day from the receipt of the child again developed severe hemorrhagic phenomena with a picture of the central brain damage, and the child died on the same day. clinical diagnosis.Congenital heart defect, interventricular defect, thrombocytopenia, cerebral hemorrhage.Agenesis of the forearm. mortem diagnosis was confirmed
.Blood transfusions can and red blood cells;prednisone gives a temporary effect.Death occurs in the first months of bleeding in the brain and lungs.
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