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Deep vein thrombosis occurs in 30% of patients with essential thrombocythemia, but rarely at initial diagnosis. We report two pediatric patients with essential thrombocythemia revealed by atypical deep vein thrombosis. First, a 16-year-old girl presented Budd-Chiari syndrome revealed by a hemorrhagic shock. Clinical exam revealed isolated splenomegaly. A search for thrombophilia found a factor V Leiden homozygous mutation and a Jak2 mutation. Bone marrow biopsy confirmed the diagnosis of a myeloproliferative disorder. The second case, a 17-year-old girl, had a routine examination by her physician that revealed splenomegaly. Ultrasonography displayed thrombus in the splenic and portal vein. An isolated Jak2 mutation was found and a myeloproliferative disorder was confirmed by bone marrow biopsy. The diagnosis of myeloproliferative disorder was made in both patients presenting atypical venous thrombosis with a Jak2 mutation and confirmed by bone marrow biopsy. These initial presentations of myeloproliferative disorders are rare in childhood and possibly underdiagnosed., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

The finding of a Philadelphia chromosome in a case of apparently primary thrombocythaemia should change the diagnosis for that of chronic myeloid leukaemia. This theoretical view is supported by the case reported here, where a Philadelphia-chromosome was detected in the bone marrow cells of a patient with severe thrombocythaemia; a typical myeloid leukaemia developed 21 months after the onset of the disease; survival was of short duration.

The number and the volume of blood platelets in 306 normal adult persons of Greek origin were studied in Greece and compared with the corresponding values of 50 normal French adults. These controls were blood donors in the blood bank of the hospital "Necker-Enfants Malades" in Paris. In both phases of the study the same methods and techniques were used by one of the authors. The number of platelets of the Greek subjects (X1) was higher compared to those of the control population (X2) and this difference is statistically significant (means 1 = 295,970/microliters +/- 87,120, means 2 = 267,800/microliters +/- 63,700, P less than 0.05). The platelet volume was only slightly elevated in the Greek population compared to the French population, but this difference is not statistically significant (means 1 = 6.99 mu 3 +/- 2.49, means 2 = 6.59 mu 3 +/- 1.78, P less than 0.1). Our findings in the Greek population are different from those observed by Von Behrens (1975) on Mediterranean immigrants in Australia. Our values in the control population are similar to those of Paulus (1974), but differ from Von Behrens' data in North European subjects. Another observation of this study, is that sex and age (excluding youths) seems to have no influence on platelet volume, but platelet count in men is slightly affected by age.