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KMID : 0378619920090010147
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Baptist Hospital Medical Journal
1992 Volume.9 No. 1 p.147 ~ p.151
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A Case of Epstein's syndrome
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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 14 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 aspirated revealed the megakaryocytes to be adequate in number and many giant size platelets. Platelet do not respond to addition of ADP and epinephrine; 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
nephritis and deafness.
We report a cases of Epstein's syndrome with brief review of related literatures.
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KEYWORD
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