Journal of the Korean Pediatric Society 1994;37(11):1610-1614.
Published online November 15, 1994.
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


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