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KMID : 0367419940370111610
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Journal of Korean Pediatric Society
1994 Volume.37 No. 11 p.1610 ~ p.1614
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A Case of Epstein's Syndrome
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최선용
채현철/조혜영/김홍배/오지섭
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Abstract
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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.
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