A Sporadic Case of Epstein Syndrome: A Rare Cause of Refractory Thrombocytopenia.
10.3904/kjm.2017.92.6.546
- Author:
Kyung Mee SONG
1
;
Heetae SONG
;
Dae Hyun JEONG
;
Junghwan LEE
;
Soo Min NOH
;
Beom Hee LEE
;
Kyoo Hyung LEE
Author Information
1. Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. khlee2@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Hearing loss, Sensorineural;
Chronic kidney diseases;
Thrombocytopenia;
Epstein syndrome;
Thrombopoietin mimetic peptide
- MeSH:
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
- From:Korean Journal of Medicine
2017;92(6):546-551
- CountryRepublic of Korea
- Language:Korean
-
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.
