A case of storage-pool disease associated with albinism

This is a case report of a 24-year-old woman with storage-pool desease associated with albinism. From her childhood, she has often experienced the prolongation of nasal bleeding or bleeding from various sites due to slight injuries, but no blood transfusions were required. At the age of 22 years, she visited a hospital because of subcutaneous bleeding in the upper and lower extremities. At that time it was found shehad prolonged bleeding time, but other examinations on coagulation factors showed no abnormalities.Since September 1975 she has developed repeatedly painful subcutaneous bleeding with swelling and heat, but recovered usually only by keeping rest. In Feburuary, 1976, she was admitted to the 3rd Department of Internal Medicine, Tohoku University Hospital in order to have precise examination on this hemorrhagic diathesis.Laboratory examinations revealed no abnormalities except for a mild anemia. The hemostatic screening tests for blood coagulability and fibrinolytic activity were almost normal. However, bleeding time was markedly prolonged to 15 minutes, and platelet function tests showed some characteristic abnormalities, that is, platelet retention rate showed 23-29%, indicating normal limit, whereas platelet aggregation induced by collagen was markedly impaired. The aggregation of normal PRP induced by supernatant which was produced by freezing and thawing of patient's PRP was more markedly decreased than that of normal control PRP. Other platelet function tests were normal. Because of the above mentioned hemostatic findings the diagnosis of ‘storage-pool disease associated with albinism’, probably the first case in Japan, was made.It is plannd to examine the patient's platelet morphology by electronmicroscopy and the contents of the patient's platelet adenine nucleotides biochemically.