Coagulation defect in congenital tyrosinaemia
نویسندگان
چکیده
منابع مشابه
A Coagulation Defect in Amyloidosis
The association of the presence of an abnormal serum protein fraction between P and y globulins in reticuloendothelial disease and lymphatic leukaemia is a Ml recognized phenomenon (Rundles et al., 1954; Buffa and Rappaport, 1957; Owen e* 1959). The combination of leukaemia and amyloidosis is also recognized, but he presence of a coagulation defect in amyloidosis must be relatively uncommon. CA...
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A 6-week-old infant is presented who suffered from a congenital haemorrhagic disorder which caused death from subdural haemorrhage following mild trauma. Haematological investigation revealed deficiencies of factor VII and Christmas factor. Prower-Stuart factor was probably also deficient although investigation of this clotting factor was carried out only on serum obtained at necropsy.
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Tyrosinaemia type II was diagnosed in a boy with failure to thrive and in his sister on neonatal screening. On diet the outcome, at 12 and 10 years respectively, has been excellent in respect of oculocutaneous sequelae, growth, and psychomotor development, contrasting with the generally unfavourable outcome in most reported cases.
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Clinical and experimental observations are described that indicate that intra-articular fibrinogenolysis is a cause of the defect of coagulation seen when blood is extravasated into a synovial joint.
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1985
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.60.5.498-d