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KMID : 0882420170920060546
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Korean Journal of Medicine
2017 Volume.92 No. 6 p.546 ~ p.551
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A Sporadic Case of Epstein Syndrome: A Rare Cause of Refractory Thrombocytopenia
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Song Kyung-Mee
Song Hee-Tae
Jeong Dae-Hyun
Lee Jung-Hwan
Noh Soo-Min
Lee Beom-Hee
Lee Kyoo-Hyung
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Abstract
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A 37-year-old female presented to our hospital with a history of bleeding episodes (excessive bleeding after tooth extraction, gum bleeding, easy bruising, and excessive menstruation) and severe thrombocytopenia (2,000/μL). She had no family history of bleeding tendency or thrombocytopenia. No peripheral lymphadenopathy or splenomegaly was noted. The patient’s white blood cell count was normal; hemoglobin was 9.7 g/dL. A peripheral blood smear showed markedly decreased platelets, with occasional giant or large platelets. Bone marrow examination found increased megakaryocytes. The patient also complained of hearing difficulty; a hearing test indicated sensory-neural hearing impairment. Her thrombocytopenia was refractory to treatment with glucocorticosteroids, intravenous gamma-globulin, and danazol. In the 13 years following her initial presentation, the patient required anti- hypertensive treatment, a hearing-aid for progressive hearing loss, and started maintenance kidney dialysis. Her clinical history of refractory thrombocytopenia, progressive hearing impairment, and renal failure suggested myosin heavy chain 9 gene-related congenital syndrome (Epstein syndrome), which was confirmed by the presence of a heterozygous deletion mutation, c.221_223del, (p.Lys74del) in peripheral leukocyte deoxyribonucleic acid.
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KEYWORD
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Hearing loss, Sensorineural, Chronic kidney diseases, Thrombocytopenia, Epstein syndrome, Thrombopoietin mimetic peptide
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