[Deep vein thrombosis revealing myeloproliferative syndrome in two adolescents].
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.
Institut d'hématologie et d'oncologie pédiatrique, 2, place Joseph-Renault, 69008 Lyon, France. Electronic address: amandine.bertrand@lyon.unicancer.fr.
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A
Bertrand
Gastro-entérologie, hôpital-Femme-Mère Enfant, 69500 Bron, France.
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Heissat
Urgences Pédiatriques, CHU d'Estaing, Clermont-Ferrand, France.
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Caron
Radiologie, hôpital Femme-Mère-Enfant, Lyon, France.
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Viremouneix
Radiologie, hôpital Femme-Mère-Enfant, Lyon, France.
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JP
Pracros
Réanimation pédiatrique, hôpital Femme-Mère-Enfant, Lyon, France.
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Javouhey
Gastro-entérologie, hôpital-Femme-Mère Enfant, 69500 Bron, France.
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Lachaux
Banque de tissus et cellules, établissement français du sang, hôpital Édouard-Herriot, Lyon, France.
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Mialou
D000293:Adolescent; D000925:Anticoagulants / Q000627:therapeutic use; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D006502:Budd-Chiari Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005165:Factor V / Q000235:genetics; D005260:Female; D006396:Hematemesis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D006720:Homozygote; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D012771:Shock, Hemorrhagic / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D013922:Thrombocytosis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D014463:Ultrasonography; D020246:Venous Thrombosis / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics
D000925:Anticoagulants; C095381:factor V Leiden; D005165:Factor V; C507924:JAK2 protein, human; D053614:Janus Kinase 2