Storage pool disease of platelets in an infant with thrombocytopenic absent radii (TAR) syndrome simulating Fanconi's anaemia.
This study reports the first example of 'storage pool disease' thrombocytopathia B (aspirin-like) in the family of a 4-month-old infant with thrombocytopenic absent radii (TAR) syndrome. In the infant and his father, platelet ADP and 5HT stores were normal, bleeding time was prolonged, released platelet anti-heparin activity, platelet aggregation (PA) to collagen and secondary aggregation to ADP were all significantly decreased and PA to l-epinephrine totally absent. Platelet function studies of the mother, a first cousin to her husband, were normal. This report provides further evidence to the hereditary nature of TAR syndrome. The impaired platelet function is a valuable aid in the diagnosis of TAR syndrome and Fanconi's anaemia.
D000015:Abnormalities, Multiple / Q000097:blood*; D000741:Anemia, Aplastic / Q000175:diagnosis*; D001791:Blood Platelet Disorders / Q000175:diagnosis*; D001792:Blood Platelets / Q000378:metabolism; D003937:Diagnosis, Differential; D004837:Epinephrine / Q000494:pharmacology; D005199:Fanconi Anemia / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010974:Platelet Aggregation / Q000187:drug effects; D011884:Radius / Q000002:abnormalities*; D013921:Thrombocytopenia / Q000151:congenital*
D004837:Epinephrine