A Case of Epstein's Syndrome.
- Author:
Seon Young CHOI
;
Hyun Chul CHAE
;
Hae Young CHO
;
Hong Bae KIM
;
Ji Sub OH
- Publication Type:Case Report
- MeSH:
Agglutination;
Anemia;
Blood Platelets;
Bone Marrow;
Child;
Collagen;
Deafness;
Epinephrine;
Epistaxis;
Genetic Diseases, Inborn;
Hematuria;
Hemorrhage;
Humans;
Male;
Megakaryocytes;
Nephritis;
Nephritis, Hereditary;
Proteinuria;
Rare Diseases;
Ristocetin;
Thrombocytopenia
- From:Journal of the Korean Pediatric Society
1994;37(11):1610-1614
- CountryRepublic of Korea
- Language:Korean
-
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 late 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 A and epinephrine; collagen and ristocetin induced agglutination response is decreased. It is difficult to be certain 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 nephritis deafness. We report a case of Epstein's syndrome syndrome with brief review of related literatures.
