Prezentare de caz – trombocitemia esentiala la copil

Abstract

Essential thrombocythemia is a rare clonally myeloproliferative disease. In this paper, the case of a 10-year and 7-month patient is presented. The patient has an intracranial hypertension syndrome. The laboratory investigations reveal thrombocythemia and the bone marrow aspiration reveals megakaryocytic hyperplasia. Janus-Kinase (JAK2V617F) was negative. The CT, RMN, angioRMN reveal vascular malformation and cerebral haemorrhage. The evolution under medical treatment was good, but the patient needs a chirurgical intervention. The particularity of the case is the association between essential thrombocythemia and cerebral arterial-venous malformation.