| Background:Essential thrombocythemia is a kind of chronic myeloproliferative disease,but the specific etiology is not alwalys clear.This disase significantly shows platelet level abnormal obvious increase and abnormal proliferation luxuriantly in bone marrow megakaryocytes, platelet into piles. The main clinical manifestations of Essential thrombocythemia are hemorrhage and thrombosis.ET is one important factor of cerebrovascular disorder which specific happened the youth.As the low incidence, insidious onset and non-specific clinical signs,whatmore clinical manifestations don’t show specific,it is difficult to diagnose the disease at the beginning. Levine, R.L had reported a base mutation in JAK2gene (T to G) in chronic myeloproliferative disease, leading to a change of Val (617) to Phe (JAK2V617F), so the people have new idea of the pathogenesis of ET,but the etiology of essential thrombocythemia is still unclear. According to the report of Lippert. E, the occurrence rate of JAK2V617F in essential thrombocythemia patients is about50%-60%, so the JAK2V617F ont only is believed as a diagnosis that is universally meaningful,but also affected the process of disgnosis and treanment and its varying clinical signifiance.Objective:By reporting a case of essential thrombocythemia with an initial symptom of myocardial infarction and cerebral infarction, we aim to research and study the results of bone marrow puncture, biopsy, chromosomal sequences and fusion gene, to confirm the standard of diagnosis and differential diagnosis, to find out the therapeutic effect after the timely treatment of interferon and antiplatelet drugs.This can furthe discuss pathogenesis and study treatment progress and learn the experience. Methods:A bone marrow puncture, biopsy, chromosomal sequences and fusion gene were done to confirm diagnosis,and then through FQ-PCR select JAK2genes,and WrighGlemsa observe the state of hyperplasia、ratio、morphology of bone marrow (erythrocytosis,guanulocytosis,lymphocyte) thrombocytosis,plate,the next step detect pathology cell,use the same method to learn the condition of circumference cell. Then the patient accepted the treatment of promoting blood circulation to remove blood stasis、anti-platelet aggregation、cardiotonic、interferon、rehabilitation xercise and so on. Blood tests as well MRI scan were checked regularly, to assess the improvement of main symptoms of the patient before and after treatment. Results:The patient is hospitalized because of headache, dizziness with chest tightness for two days, CK-MB18.00ng/ml, CTNI4.14ng/ml (0-0.06), N-terminal pro-brain natriuretic peptide4524pg/ml. ECG showed acute myocardial infarction. The next day this patient with the symptom of visual ghosting, right arm extremity weakness with numbness. Brain MR scan and enhancement show acute cerebral infarction. Examination:the muscle strength of proximal right upper limb is grade3and distal muscle strength is grade2. the muscle strength of left upper limb reach grade4and the muscle strength of lower limbs is normal. Bilateral knees reflex disappear and the finger-to-nose test and heel-knee-shin test on the right limbs are inaccurate. Superficial sensation and deep sensation is normal. Bilateral Babinski (+).The results of bone marrow puncture, biopsy, chromosomal sequences and fusion gene shows essential thrombocythemia. Quantitative detection of fusion gene shows: the result of PCR florescence quantitative detection for JAK2is the coexistence of mutant and wild-type (heterozygous);BCR/ABL negative. Analysis of chromosomal sequences is normal. Platelet count of the patient up to703*109/L. The patient receive the treatment of Recombinant Human Interferon a-2b300million units subcutaneously every other day, Aspirin、Nimodipine oral every day, rehabilitation exercise, nutrition, cardiac and others proactive timely, The platelet count returned to normal. The lession have shrunk on the image The deficit symptoms of nervous system are not left over.Conclusions:The etiology of the cerebral infarction occur in the young patient is relatively more complicated than the old, such as atherosclerosis, diabetes,hypertension, heart diseases, hematological system diseases and various kinds of diseases the can change blood components and rheology. The hematological system disease is an important one. Therefore, for young patient who absence of common risk factors of atherosclerosis should pay attention to care the blood tests and JAK2V617F in order to exclude blood diseases, such as PV,ET.So that can avoid misdiagnosis delay diagnosis and treatment to harm life and even death, But if received treatment timely will have a good prognosis. The patient receive the active treatment of Recombinant Human Interferon a-2b300million units subcutaneously every other day, Aspirin100mg every day and so on. Not only radiographic lesions significantly reduced,but also the patient didn’t leave over neurological deficit symptoms. Through the treatment of the patient and the evaluation of prognosis, the case provides a reliable basis on the future option of diagnosis and treatment plan for the disease... |
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