Korean J Med.  2017 Dec;92(6):546-551. 10.3904/kjm.2017.92.6.546.

A Sporadic Case of Epstein Syndrome: A Rare Cause of Refractory Thrombocytopenia

• Song KM
• Song H
• Jeong DH
• Lee J
• Noh SM
• Lee BH
• Lee KH

• KMID: 2400921
• DOI: http://doi.org/10.3904/kjm.2017.92.6.546

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.

Keyword

Hearing loss, Sensorineural; Chronic kidney diseases; Thrombocytopenia; Epstein syndrome; Thrombopoietin mimetic peptide

MeSH Terms

Adult
Bone Marrow Examination
Danazol
Dialysis
DNA
Female
gamma-Globulins
Gingiva
Hearing
Hearing Loss
Hearing Loss, Sensorineural
Hearing Tests
Hemorrhage
Humans
Kidney
Leukocyte Count
Leukocytes
Lymphatic Diseases
Megakaryocytes
Myosin Heavy Chains
Renal Insufficiency
Renal Insufficiency, Chronic
Sequence Deletion
Splenomegaly
Thrombocytopenia*
Tooth Extraction
DNA
Danazol
Myosin Heavy Chains
gamma-Globulins