This study reports the first example of ‘storage pool disease’ thrombocyto-pathia 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.
This study reports the first example of storage pool disease, “aspirin like” variety, in a 4 month old infant with multiple congenital malformations including bilateral absent radii, thumbs and right kidney, dislocation of hip joints, equinovarus, convergent squint and hypospadias. Platelet count was decreased to 29,000/mm3 at birth and rose to 296,000/mm3 4 months later. Studies of platelet function showed a slightly prolonged bleeding time (ivy technic), decreased aggregation to collagen 0,003% and ADP 4 MM, total absence of aggregation to l-epinephrine and decreased platelet factor 4 activity. Platelet serotonin content was slightly decreased. These abnormal findings were equally detected with the father’s platelets, suggesting a genetic transmission of the platelet disorder. Platelet function of the mother, which is a first cousin of her husband, were normal. This study provides further evidence to the hereditary nature of thrombocytopenic absent radii (TAR) syndrome. The impaired platelet function seems to be an important and helpful test in the differential diagnosis of TAR syndrome and Fanconi anemia.
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