The Sebastian platelet syndrome. Report of the first native Saudi Arabian patient.
Sebastian platelet syndrome is an hereditary thrombocytopenia with giant platelets and inclusion bodies in the granulocytes consisting of dispersed filaments, clusters of ribosomes and a few segments of rough and smooth endoplasmic reticulum at the ultrastructural level, similar to those observed in Fechtner syndrome (a variant of the Alport syndrome)--Sebastian platelet syndrome lacks the additional clinical features such as high frequency deafness, congenital cataract, and chronic interstitial nephritis. Here we report the fourth case worldwide and the first of an Arabian ancestry.
Khalil
S H
SH
Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Qari
M H
MH
D001792:Blood Platelets / Q000473:pathology*; D018870:Endoplasmic Reticulum, Rough / Q000648:ultrastructure; D018871:Endoplasmic Reticulum, Smooth / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D009504:Neutrophils / Q000473:pathology; D012529:Saudi Arabia; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics / Q000473:pathology*