Sebastian platelet syndrome: two Japanese families originally diagnosed with May-Hegglin anomaly.
Ultrastructural studies of granulocytes were performed on two unrelated patients with hereditary thrombocytopenia, giant platelets, and inclusion bodies in granulocytes. Each patient had been diagnosed with May-Hegglin anomaly. In both cases, inclusion bodies in granulocytes consisted of clusters of ribosomes and small segments of rough endoplasmic reticulum. Additional clinical features suggesting Alport syndrome were lacking in these propositi and their family members. These observations imply that the patients were affected not with May-Hegglin anomaly but with Sebastian platelet syndrome. They would thus represent the seventh and eighth families known to carry this hereditary disease.
Tsuda
H
H
Division of Clinical Hematology and Immunology, Kumamoto City Hospital, Japan. tsudasan@wc4.so-net.ne.jp
Yamasaki
H
H
Miyayama
H
H
D000328:Adult; D001791:Blood Platelet Disorders / Q000473:pathology; D005192:Family Health; D005260:Female; D006098:Granulocytes / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology / Q000648:ultrastructure; D007564:Japan / Q000453:epidemiology; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology