Greinacher A, Nieuwenhuis H K, White J G
Institut für Klinische Immunologie und Transfusionsmedizin, Justus-Lieblig-Universität Giessen.
Beitr Infusionsther. 1990;26:383-5.
A new variant of hereditary thrombocytopenia combined with giant platelets and inclusion bodies in the leukocytes different from those found in the May Hegglin anomaly and from Döhle bodies is presented. Investigations of platelet function, platelet nucleotides and clotting studies revealed normal results. Beside their size and spherical shape platelets did not show morphologic abnormalities. The inclusion bodies were similar to those found in the Fechtner syndrome, a variant of Alport's syndrome. However, the feature of Alport's syndrome, including high frequency deafness, congenital cataracts, and chronic interstitial nephritis are absent in the family pedigree. Thus the Sebastian platelet syndrome represents a unique syndrome with giant platelets and inclusion bodies in the leukocytes.
本文报告了一种遗传性血小板减少症的新变体，其伴有巨大血小板以及白细胞中的包涵体，这些包涵体不同于在May-Hegglin异常中发现的包涵体，也不同于Döhle小体。血小板功能、血小板核苷酸及凝血研究的结果均正常。除了大小和球形外，血小板未显示形态学异常。这些包涵体与在Fechtner综合征（Alport综合征的一种变体）中发现的包涵体相似。然而，该家族谱系中不存在Alport综合征的特征，包括高频耳聋、先天性白内障和慢性间质性肾炎。因此，Sebastian血小板综合征代表了一种具有巨大血小板和白细胞包涵体的独特综合征。
