| A Case of Epstein's Syndrome |
|
Seon Young Choi, Hyun Chul Chae, Hae Young Cho, Hong Bae Kim, Ji Sub Oh |
|
Department of Pediatrics, Wallace Memorial Baptist Hospital, Pusan, Korea |
| Epstein 증후군 1례 |
|
최선용, 채현철, 조혜영, 김홍배, 오지섭 |
|
왈레스 기념 침례병원 소아과 |
|
|
|
|
| Abstract |
|
Epstein's syndrome is a rare disease whish is characterized by the association of thrombocytopenia, macrothrombocytopathia, nephritis and deafness.
We experienced a case of Epstein's syndrome in a 12 years old male patient who was presented with a life long history of bleeding, usually as epistaxis, bilateral sensorineural deafness and hematuria with proteinuria starting in the childhood. Hematologic studies showed thrombocytopenia with giant platelets and anemia.
A bone marrow aspirate revealed the megakaryocytes to be adequate in number and many giant size platelets. Platelet do not respond to addition of ADP and epinephirne; collagen and ristocetin induced agglutination response is decreased. It is difficult to be certain whether the association of thrombocytopenia with giant platelets, nephritis and deafness constitutes a new hereditary disease with a distinct pathogenesis or if it is an expansion of the well recognized Alport's syndrome of hereditary hephritis and deafness.
We report a case of Epstein's syndrome with brief review of related literatures. |
| Key Words:
Epstein's syndrome, Giant platelet, Macrothrombocytopathia |
|
PDF Links
Download Citation
