All issues > Volume 37(11); 1994

Case Report

J Korean Pediatr Soc. 1994;37(11):1610-1614. Published online November 15, 1994.

A Case of Epstein's Syndrome

Seon Young SY Choi¹, Hyun Chul HC Chae¹, Hae Young HY Cho¹, Hong Bae HB Kim¹, Ji Sub JS Oh¹

¹Department of Pediatrics, Wallace Memorial Baptist Hospital, Pusan, Korea

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.

Keywords :Epstein's syndrome, Giant platelet, Macrothrombocytopathia