Sebastian platelet syndrome: a hereditary macrothrombocytopenia. 2003

Vilmarie Rodriguez, and William L Nichols, and Jon E Charlesworth, and James G White
Division of Pediatric Hematology/Oncology, Mayo Clinic, Rochester, Minn 55905, USA.

Sebastian platelet syndrome is a rare autosomal dominant disorder characterized by macrothrombocytopenia with granulocyte inclusions similar to those in patients with Fechtner platelet syndrome but without evidence of hereditary nephritis and sensorineural hearing loss that characterizes the latter. Although by light microscopy the granulocyte inclusions in these disorders appear morphologically similar to those found in May-Hegglin anomaly, another autosomal dominant macrothrombocytopenia, by electron microscopy the inclusions are distinct. Studies of platelet function usually suggest normal or near-normal platelet function, although mild bleeding symptoms can be associated with each of these disorders. We describe a 38-year-old woman and her 11-year-old daughter who presented with lifelong histories of mild thrombocytopenia and easy bruising. Detailed hemostatic studies showed prolonged bleeding times in the child and the mother, with the child having absent secondary wave platelet aggregation responses to epinephrine, also reflected by testing with the platelet function analyzer (PFA-100 device). The mother's hemostatic studies were normal including platelet aggregometry, PFA-100 testing, and platelet flow cytometry. By light microscopy the blood smears of both individuals showed neutrophil inclusions, and their platelets were mildly enlarged but were not giant. Electron microscopy showed the neutrophil inclusions seen in classic Sebastian platelet syndrome or Fechtner platelet syndrome. These 2 cases expand the description of Sebastian platelet syndrome to include individuals with large but not giant platelets and mild or minimal thrombocytopenia. The differential diagnosis of hereditary thrombocytopenias is reviewed briefly.

UI MeSH Term Description Entries
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003894 Deamino Arginine Vasopressin A synthetic analog of the pituitary hormone, ARGININE VASOPRESSIN. Its action is mediated by the VASOPRESSIN receptor V2. It has prolonged antidiuretic activity, but little pressor effects. It also modulates levels of circulating FACTOR VIII and VON WILLEBRAND FACTOR. Desmopressin,Vasopressin, Deamino Arginine,1-Deamino-8-D-arginine Vasopressin,1-Desamino-8-arginine Vasopressin,Adiuretin,Adiuretin SD,Apo-Desmopressin,DDAVP,Desmogalen,Desmopressin Acetate,Desmopressin Monoacetate,Desmopressin Monoacetate, Trihydrate,Desmopressine Ferring,Desmospray,Desmotabs,Minirin,Minurin,Nocutil,Octim,Octostim,Acetate, Desmopressin,Arginine Vasopressin, Deamino,Ferring, Desmopressine,Monoacetate, Desmopressin,Monoacetate, Trihydrate Desmopressin,Trihydrate Desmopressin Monoacetate,Vasopressin, 1-Deamino-8-D-arginine,Vasopressin, 1-Desamino-8-arginine
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D006490 Hemostatics Agents acting to arrest the flow of blood. Absorbable hemostatics arrest bleeding either by the formation of an artificial clot or by providing a mechanical matrix that facilitates clotting when applied directly to the bleeding surface. These agents function more at the capillary level and are not effective at stemming arterial or venous bleeding under any significant intravascular pressure. Antihemorrhagic,Hemostatic,Antihemorrhagics
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013921 Thrombocytopenia A subnormal level of BLOOD PLATELETS. Thrombopenia,Thrombocytopenias,Thrombopenias
D014068 Tonsillectomy Surgical removal of a tonsil or tonsils. (Dorland, 28th ed) Tonsillectomies
D019106 Postoperative Hemorrhage Hemorrhage following any surgical procedure. It may be immediate or delayed and is not restricted to the surgical wound. Blood Loss, Postoperative,Hemorrhage, Postoperative,Hemorrhages, Postoperative,Postoperative Hemorrhages,Loss, Postoperative Blood,Postoperative Blood Loss

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