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A Sporadic Case of Epstein Syndrome: A Rare Cause of Refractory Thrombocytopenia / 대한내과학회지
Korean Journal of Medicine ; : 546-551, 2017.
Article in Korean | WPRIM | ID: wpr-103595
ABSTRACT
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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Full text: Available Index: WPRIM (Western Pacific) Main subject: Splenomegaly / Thrombocytopenia / Tooth Extraction / Bone Marrow Examination / DNA / Gamma-Globulins / Megakaryocytes / Sequence Deletion / Myosin Heavy Chains / Danazol Limits: Adult / Female / Humans Language: Korean Journal: Korean Journal of Medicine Year: 2017 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Splenomegaly / Thrombocytopenia / Tooth Extraction / Bone Marrow Examination / DNA / Gamma-Globulins / Megakaryocytes / Sequence Deletion / Myosin Heavy Chains / Danazol Limits: Adult / Female / Humans Language: Korean Journal: Korean Journal of Medicine Year: 2017 Type: Article