A Sporadic Case of Epstein Syndrome: A Rare Cause of Refractory Thrombocytopenia / 대한내과학회지
Korean Journal of Medicine
; : 546-551, 2017.
Article
em Ko
| WPRIM
| ID: wpr-103595
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Esplenomegalia
/
Trombocitopenia
/
Extração Dentária
/
Exame de Medula Óssea
/
DNA
/
Gama-Globulinas
/
Megacariócitos
/
Deleção de Sequência
/
Cadeias Pesadas de Miosina
/
Danazol
Limite:
Adult
/
Female
/
Humans
Idioma:
Ko
Revista:
Korean Journal of Medicine
Ano de publicação:
2017
Tipo de documento:
Article