A Case of Epstein's Syndrome
Journal of the Korean Pediatric Society
;
: 1610-1614, 1994.
Article
Dans Coréen
| WPRIM
| ID: wpr-191419
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Protéinurie
/
Thrombopénie
/
Plaquettes
/
Moelle osseuse
/
Mégacaryocytes
/
Ristocétine
/
Épinéphrine
/
Épistaxis
/
Collagène
/
Surdité
Limites du sujet:
Enfant
/
Humains
/
Mâle
langue:
Coréen
Texte intégral:
Journal of the Korean Pediatric Society
Année:
1994
Type:
Article
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