Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions

Abstract

This report describes a new variant of hereditary macrothrombocytopenia combined with the presence of neutrophil inclusions that differ from those found in patients with May-Hegglin anomaly, the Chediak-Higashi syndrome or individuals with septicaemia and toxic Döhle bodies in polymorphonuclear leukocytes (PMN). The PMN inclusions in the family described in this report are similar to those found in patients with the Fechtner syndrome, a variant of Alport's syndrome. However, other features of Alport's syndrome, including high frequency deafness, congenital cataracts, and chronic interstitial nephritis are absent in the members of the family described here. We have named this anomaly the Sebastian platelet syndrome. The macrothrombocytopenia and neutrophil inclusions observed in this family can occur in the absence of other congenital anomalies and therefore represent a unique syndrome.